Full data view for gene PRPH2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000322.4 transcript reference sequence.

191 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic g.42689559G>A g.42721821G>A PRPH2(NM_000322.5):c.514C>T (p.R172W) - PRPH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61755792 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic g.42689559G>A g.42721821G>A - - PRPH2_000035 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic g.42689559G>A g.42721821G>A PRPH2(NM_000322.5):c.514C>T (p.R172W) - PRPH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.514C>T r.(?) p.(Arg172Trp) Parent #1 - likely pathogenic (dominant) g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs61755792 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC06757 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.514C>T r.(?) p.(Arg172Trp) Unknown ACMG likely pathogenic g.42689559G>A - - - PRPH2_000035 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. 1 c.514C>T r.(?) p.(Arg172Trp) Parent #1 - pathogenic (dominant) g.42689559G>A - - - PRPH2_000035 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
+/. 1 c.514C>T r.(?) p.(Arg172Trp) Parent #1 - pathogenic (dominant) g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat142 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - likely pathogenic g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Bryant 2018 - rs61755792 Germline - - - - - DNA SEQ-NG - WES retinal disease JB46 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.514C>T r.(?) p.(Arg172Trp) Parent #1 - pathogenic (dominant) g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD20–06 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+/. - c.514C>T r.(?) p.(Arg172Trp) Parent #1 - pathogenic (dominant) g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD20–07 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
?/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - VUS g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD14–06 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+/. - c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic g.42689559G>A g.42721821G>A - - PRPH2_000035 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD20–07 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+/. 1 c.514C>T r.(?) p.(Arg172Trp) Unknown ACMG pathogenic g.42689559G>A g.42721821G>A - - PRPH2_000035 ACMG PS3, PS4, PM1, PM2,PM5, PP1_strong, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A c.514C>T; p.R172W - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Unknown - 9/147 - - - DNA MIPsm, SEQ blood - retinal disease Patient 67 (LEV) PubMed: Peeters 2021, Journal: Peeters 2021 index case M - Brazil - - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A c.514C>T; p.R172W - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Unknown - 9/147 - - - DNA MIPsm, SEQ blood - retinal disease Patient 68 (OPH1818) PubMed: Peeters 2021, Journal: Peeters 2021 index case F - France white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A c.514C>T; p.R172W - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Unknown - 9/147 - - - DNA MIPsm, SEQ blood - retinal disease Patient 69 (IRD0749) PubMed: Peeters 2021, Journal: Peeters 2021 index case F - Australia - - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp) - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline - 9/147 - - - DNA PCR, SEQ blood - retinal disease Patient 70 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp) - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline - 9/147 - - - DNA PCR, SEQ blood - retinal disease Patient 71 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp) - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline - 9/147 - - - DNA PCR, SEQ blood - retinal disease Patient 72 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp) - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline - 9/147 - - - DNA SEQ-NG blood WES retinal disease Patient 73 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp) - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline - 9/147 - - - DNA SEQ-NG blood WES retinal disease Patient 74 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp) - PRPH2_000035 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline - 9/147 - - - DNA SEQ-NG blood WES retinal disease Patient 75 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/400 cases - - - DNA PCR, SEQ blood - retinal disease Family_3_II:3 PubMed: Wells 1993, PubMed: Wroblewski 1994 Brother index case, uncle of family_3_III:1/III:2. M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/400 cases - - - DNA PCR, SEQ blood - retinal disease Family_3_II:4 PubMed: Wells 1993, PubMed: Wroblewski 1994 index case, brother of family_3_II:3, father of family_3_III:1/III:2, grandfather of family_3_IV:2/IV:5 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/400 cases - - - DNA PCR, SEQ blood - retinal disease Family_3_III:1 PubMed: Wells 1993, PubMed: Wroblewski 1994 Daughter index case, niece of family_3_II:3, sister family_3_III:2, mother of family_3_IV:2, aunt of family_3_IV:5 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/58 cases - - - DNA PCR, SEQ blood - retinal disease Family_4_II:1 PubMed: Wells 1993, PubMed: Wroblewski 1994 Aunt index case/family_4_III:4 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/58 cases - - - DNA PCR, SEQ blood - retinal disease Family_4_III:3 PubMed: Wells 1993, PubMed: Wroblewski 1994 index case, cousin family_4_II:1, brother family_4_III:4, father of family_4_IV:2 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/58 cases - - - DNA PCR, SEQ blood - retinal disease Family_4_III:4 PubMed: Wells 1993, PubMed: Wroblewski 1994 Sister index case, niece of family_4_II:1, aunt of family_4_IV:2 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/400 cases - - - DNA PCR, SEQ blood - retinal disease Family_3_III:2 PubMed: Wells 1993, PubMed: Wroblewski 1994 Son index case, cousin of family_3_II:3, brother of family_3_III:1, father of family_3_IV:5, uncle of family_3_IV:2 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/400 cases - - - DNA PCR, SEQ blood - retinal disease Family_3_IV:2 PubMed: Wells 1993, PubMed: Wroblewski 1994 Grand daughter index case, daughter family_3_III:1, niece of family_3_III:2/IV:5 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/400 cases - - - DNA PCR, SEQ blood - retinal disease Family_3_IV:5 PubMed: Wells 1993, PubMed: Wroblewski 1994 Grand son index case, son of family_III:2, cousin of family_3_III:1/IV:2 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Wells 1993, PubMed: Wroblewski 1994, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/58 cases - - - DNA PCR, SEQ blood - retinal disease Family_4_IV:2 PubMed: Wells 1993, PubMed: Wroblewski 1994 Daughter index case, niece of family_III:4 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+?/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - likely pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Nakazawa 1995 , PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/2 families - - - DNA PCR, SSCA, SEQ blood - retinal disease III:4 PubMed: Nakazawa 1995 index case, father of IV:2 M no Japan Asia - - - - 1 Manon Peeters
+?/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - likely pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Nakazawa 1995 , PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/2 families - - - DNA PCR, SSCA, SEQ blood - retinal disease IV:2 PubMed: Nakazawa 1995 Son index case M no Japan Asia - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A G-to-A nucleotide sequence change in the antisense strand; p.Arg172Trp - PRPH2_000035 - PubMed: Reig 1995, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 3/7 - - - DNA PCR, DGGE, SEQ blood - retinal disease Patient 1 PubMed: Reig 1995 index case, father of patient 4 and 5 M no Spain white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A G-to-A nucleotide sequence change in the antisense strand; p.Arg172Trp - PRPH2_000035 - PubMed: Reig 1995, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 3/7 - - - DNA PCR, DGGE, SEQ blood - retinal disease Patient 4 PubMed: Reig 1995 Daughter index case, sister patient 5. F no Spain white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A G-to-A nucleotide sequence change in the antisense strand; p.Arg172Trp - PRPH2_000035 - PubMed: Reig 1995, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 3/7 - - - DNA PCR, DGGE, SEQ blood - retinal disease Patient 5 PubMed: Reig 1995 Son index case, brother of patient 4 M no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - likely pathogenic (dominant) g.42689559G>A g.42721821G>A R172W - PRPH2_000035 - PubMed: Jacobson 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes - - - - DNA PCR, SSCA, SEQ blood GC-clamped denaturing gradient-gel electrophoresis retinal disease Family_1_Arg172Trp PubMed: Jacobson 1996 index case of this family not indicated, nor the number of affected memebers carryining this variant - - United States - - - - - 1 Manon Peeters
+?/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - likely pathogenic (dominant) g.42689559G>A g.42721821G>A R172W - PRPH2_000035 - PubMed: Jacobson 1996, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes - - - - DNA PCR, SSCA, SEQ blood GC-clamped denaturing gradient-gel electrophoresis retinal disease Family_2_Arg172Trp PubMed: Jacobson 1996 index case of this family not indicated, nor the number of affected memebers carryining this variant - - United States - - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Kohl 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 1/76 cases - - - DNA PCR, SSCA, SEQ blood - retinal disease Family_W/K_III:2 PubMed: Kohl 1997 Mother of family_W/K_IV:2, sister of family_W/K_III:3, aunt of family_W/K_IV:4/IV:5 F no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Kohl 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 1/76 cases - - - DNA PCR, SSCA, SEQ blood - retinal disease Family_W/K_III:3 PubMed: Kohl 1997 Father of family_W/K_IV:4/IV:5, brother of family_W/K_III:2, aunt of family_W/K_IV:2 M no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Kohl 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 1/76 cases - - - DNA PCR, SSCA, SEQ blood - retinal disease Family_W/K_IV:4 PubMed: Kohl 1997 Son of family_W/K_III:3, brother of family_W/K_IV:5, cousin of family_W/K_III:2/IV:2 M no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Kohl 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 1/76 cases - - - DNA PCR, SSCA, SEQ blood - retinal disease Family_W/K_IV:2 PubMed: Kohl 1997 Son of family_W/K_III:2, cousin of family_W/K_III:3/IV:4/IV:5 M no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Kohl 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 1/76 cases - - - DNA PCR, SSCA, SEQ blood - retinal disease Family_W/K_IV:5 PubMed: Kohl 1997 Daughter of family_W/K_III:3, sister of family_W/K_IV:4, niece of family_W/K_III:2/IV:2 F no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_1/Family_A_II:2 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_1/Family_A_IV:1 PubMed: Downes 1999 index case not indicated F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_2/Family_B_IV:1 PubMed: Downes 1999 index case F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_4/Family_D_II:4 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_4/Family_D_III:1 PubMed: Downes 1999 index case not indicated F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_5/Family_E_III:2 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_5/Family_E_IV:2 PubMed: Downes 1999 index case not indicated F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_6/Family_F_II:2 PubMed: Downes 1999 index case F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_7/Family_H_III:1 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_7/Family_H_IV;1 PubMed: Downes 1999 index case not indicated F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_8/Family_I_III:1 PubMed: Downes 1999 index case not indicated F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_8/Family_I_IV;1 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_9/Family_J_II:3 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_9/Family_J_III:1 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_10/Family_K_III:2 PubMed: Downes 1999 index case not indicated M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes) - PRPH2_000035 - PubMed: Payne 1998, PubMed: Downes 1999, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 10/400 cases - - - DNA PCR, HD, SEQ blood - retinal disease Family_11/Family_L_IV:11 PubMed: Downes 1999 index case not indicated - no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C-to-T transition; Arg-172-Trp - PRPH2_000035 - {PMID:Ekström 1998:9810570), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 7/13 - - - DNA PCR, DGGE, SEQ blood - retinal disease II:2 {PMID:Ekström 1998:9810570) Father III:4, brother II:4/II:4, uncle III:5/III:6/III:8 M no Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C-to-T transition; Arg-172-Trp - PRPH2_000035 - {PMID:Ekström 1998:9810570), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 7/13 - - - DNA PCR, DGGE, SEQ blood - retinal disease II:3 {PMID:Ekström 1998:9810570) Mother III:5/III:6, sister II:2/II:4, aunt III:4/III:8 F no Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C-to-T transition; Arg-172-Trp - PRPH2_000035 - {PMID:Ekström 1998:9810570), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 7/13 - - - DNA PCR, DGGE, SEQ blood - retinal disease II:4 {PMID:Ekström 1998:9810570) Mother III:8, sister II:2/II:3, aunt III:4/III:5/III:6 F no Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C-to-T transition; Arg-172-Trp - PRPH2_000035 - {PMID:Ekström 1998:9810570), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 7/13 - - - DNA PCR, DGGE, SEQ blood - retinal disease III:4 {PMID:Ekström 1998:9810570) Daughter II:2, niece II:3/II:4/III:5/III:6/III:8 F no Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C-to-T transition; Arg-172-Trp - PRPH2_000035 - {PMID:Ekström 1998:9810570), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 7/13 - - - DNA PCR, DGGE, SEQ blood - retinal disease III:5 {PMID:Ekström 1998:9810570) Son II:3, brother III:6, cousin II:2/II:4/III:4/III:8 M no Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C-to-T transition; Arg-172-Trp - PRPH2_000035 - {PMID:Ekström 1998:9810570), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 7/13 - - - DNA PCR, DGGE, SEQ blood - retinal disease III:6 {PMID:Ekström 1998:9810570) Daughter II:3, sister III:5, niece II:2/II:4/III:4/III:8 F no Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A C-to-T transition; Arg-172-Trp - PRPH2_000035 - {PMID:Ekström 1998:9810570), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 7/13 - - - DNA PCR, DGGE, SEQ blood - retinal disease III:8 {PMID:Ekström 1998:9810570) Son II:4, cousin II:2/II:3/III:4/III:5/III:6 M no Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W - PRPH2_000035 - PubMed: Ekström 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Unknown - 1/38 - - - DNA PCR, DGGE, SEQ blood - retinal disease RP13 PubMed: Ekström 1998 index case - - Sweden white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease IV-4 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease IV-6 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease IV-12 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease IV-37 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease V-2 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease V-6 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease V-8 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease V-14 {PMID:Donoso 2003:12608515) index case M no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease V-20 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors - no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease V-39 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors M no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease VI-4 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors F no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease VI-7 {PMID:Donoso 2003:12608515) Daughter index case F no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A C to G mutation at codon 172; Arg172Trp - PRPH2_000035 - {PMID:Donoso 2003:12608515), PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 13/178 - - - DNA PCR, SEQ blood two-point linkage analysis retinal disease VI-27 {PMID:Donoso 2003:12608515) IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors F no Canada white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Ba-Abbad 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease III:9 PubMed: Michaelides 2005 index case not indicated. Family member of IV:2/IV:9/IV:11/IV:13 and V:5/V:6/V:9/V:10 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Maternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease IV:2 PubMed: Michaelides 2005 index case not indicated.Niece IV:9/IV:11/IV:13, familymemebr III:9/V:5/V:6/V:9/V:10 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease IV:9 PubMed: Michaelides 2005 index case not indicated. Father V:5, brother IV:11/IV:13, uncle of V:6/V:9/V:10, cousin IV:2, familymember III:9 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Ba-Abbad 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease IV:11 PubMed: Michaelides 2005 index case not indicated.Father V:6, brother IV:9/IV:13, uncle of V:5/V:9/V:10, cousin IV:2, familymember III:9 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease IV:13 PubMed: Michaelides 2005 index case not indicated.Father V:9/V:10, brother IV:9/IV:11, uncle of V:5/V:6, cousin IV:2, familymember III:9 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease V:5 PubMed: Michaelides 2005 index case not indicated. Daughter of IV:9, niece IV:11/IV:13/V:6/V:9/V:10, familymember of IV:2/III:9 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease V:6 PubMed: Michaelides 2005 index case not indicated. Daughter IV:11, niece IV:9/IV:13/V:5/V:9/V:10, familymember IV:2/III:9 F no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease V:9 PubMed: Michaelides 2005 index case not indicated. Son of IV:13, brother of V:10, cousin IV:9/IV:11/V:5/V:6, familymember IV:2/III:9 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A R172W (C-to-T transition in codon 172) - PRPH2_000035 - PubMed: Michaelides 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 9/22 - - - DNA PCR, SEQ blood - retinal disease V:10 PubMed: Michaelides 2005 index case not indicated. Son of IV:13, brother of V:9, cousin IV:9/IV:11/V:5/V:6, familymember IV:2/III:9 M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A 751 CGG>TGG; Arg172Trp - PRPH2_000035 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/61 cases - - - DNA DGGE, PCR, SEQ blood - retinal disease FAM_DM-15b PubMed: Gamundi 2007 index case - - Spain white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (inferred) - pathogenic (dominant) g.42689559G>A g.42721821G>A 751 CGG>TGG; Arg172Trp - PRPH2_000035 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/61 cases - - - DNA DGGE, PCR, SEQ blood - retinal disease FAM_DM-16b_II:7 PubMed: Gamundi 2007 index case. Father of FAM_DM-16b_III:11 and FAM_DM-16b_III:12 M no Spain white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A 751 CGG>TGG; Arg172Trp - PRPH2_000035 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/61 cases - - - DNA DGGE, PCR, SEQ blood - retinal disease FAM_DM-16b_III:11 PubMed: Gamundi 2007 Daughter of index case, sister of FAM_DM-16b_III:12 F no Spain white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Paternal (confirmed) - pathogenic (dominant) g.42689559G>A g.42721821G>A 751 CGG>TGG; Arg172Trp - PRPH2_000035 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 2/61 cases - - - DNA DGGE, PCR, SEQ blood - retinal disease FAM_DM-16b_III:12 PubMed: Gamundi 2007 Son index case, brother of FAM_DM-16b_III:11 M no Spain white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A c.514CT; p.Arg172Trp - PRPH2_000035 - PubMed: Renner 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 3/22 - - - DNA PCR, SEQ blood - retinal disease 5254-F519 daughter PubMed: Renner 2009 index case not indicated F no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A c.514CT; p.Arg172Trp - PRPH2_000035 - PubMed: Renner 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 3/22 - - - DNA PCR, SEQ blood - retinal disease 5254-F519 son PubMed: Renner 2009 index case not indicated M no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A c.514CT; p.Arg172Trp - PRPH2_000035 - PubMed: Renner 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes 3/22 - - - DNA PCR, SEQ blood - retinal disease 5254-F519 mother PubMed: Renner 2009 index case not indicated F no Germany white - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Anand 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes - - - - DNA SSCA, PCR, SEQ blood - retinal disease Family 1 case 1 PubMed: Anand 2009 index case not indicated - no United Kingdom (Great Britain) (white) - - - - 1 Manon Peeters
+/+ 1 c.514C>T r.(?) p.(Arg172Trp) Unknown - pathogenic (dominant) g.42689559G>A g.42721821G>A Arg172Trp - PRPH2_000035 - PubMed: Anand 2009, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755792 Germline yes - - - - DNA SSCA, PCR, SEQ blood - retinal disease Family 1 case 2 PubMed: Anand 2009 index case not indicated - no United Kingdom (Great Britain) (white) - - - - 1 Manon Peeters
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