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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
+/. 1 c.441del r.(?) p.(Gly148Alafs*5) Parent #1 - pathogenic g.42689632del g.42721894del - - PRPH2_000002 - PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. - c.441del r.(?) p.(Gly148AlafsTer5) Unknown - pathogenic g.42689632del g.42721894del PRPH2(NM_000322.4):c.441delT (p.G148Afs*5) - PRPH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441del r.(?) p.(Gly148Alafs*5) Unknown ACMG pathogenic g.42689632del - c.441delT - PRPH2_000002 - 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
+/. - c.441del r.(?) p.(Gly148Alafs*5) Unknown ACMG pathogenic g.42689632del - c.441delT - PRPH2_000002 - 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.441del r.(?) p.(Gly148Alafs*5) Parent #1 - pathogenic (dominant) g.42689632del g.42721894del - - PRPH2_000002 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat141 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 1 c.441del r.(?) p.(Gly148Alafs*5) Parent #1 - pathogenic (dominant) g.42689632del g.42721894del - - PRPH2_000002 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat147 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown ACMG pathogenic g.42689632del g.42721894del - - PRPH2_000002 ACMG PVS1, PS4, PM1, PP1 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 1/93 cases MspI+;MvaI- - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown1 PubMed: Trujillo 1998 Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided. - no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 1/93 cases MspI+;MvaI- - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown2 PubMed: Trujillo 1998 Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided. - no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 1/93 cases MspI+;MvaI- - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown3 PubMed: Trujillo 1998 Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided. - no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 1/93 cases MspI+;MvaI- - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown4 PubMed: Trujillo 1998 Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided. - no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 1/93 cases MspI+;MvaI- - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown5 PubMed: Trujillo 1998 Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided. - no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 1/93 cases MspI+;MvaI- - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown6 PubMed: Trujillo 1998 Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided. - no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 1/93 cases MspI+;MvaI- - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown7 PubMed: Trujillo 1998 Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided. - no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later - PRPH2_000002 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline - 1/61 cases MspI+;MvaI- - - DNA DGGE, PCR, SEQ blood - retinal disease DM-3 PubMed: Gamundi 2007 index case - - Spain white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.P147fsX4 - PRPH2_000002 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 7/30 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Family_D_II:2 PubMed: Boon 2007 Sister index case (Family_D_II:3), aunt Family_D_III:1 F no Netherlands white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.P147fsX4 - PRPH2_000002 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 7/30 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Family_D_II:3 PubMed: Boon 2007 index case, sister Family_B_II:2, mother Family_B_III:1 F no Netherlands white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Maternal (confirmed) - likely pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.P147fsX4 - PRPH2_000002 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 7/30 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Family_D_III:1 PubMed: Boon 2007 Daughter index case (Family_D_II:3), niece Family_D_II:2 F no Netherlands white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.P147fsX4 - PRPH2_000002 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 7/30 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Family_E_III:3 PubMed: Boon 2007 index case, mother Family_E_IV:1, sister Family_E_III:14 and Family_E_III:15 F no Netherlands white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.P147fsX4 - PRPH2_000002 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 7/30 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Family_E_III:14 PubMed: Boon 2007 Brother index case (Family_E_III:3) and Family_E_III:15, uncle Family_E_IV:1 M no Netherlands white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.P147fsX4 - PRPH2_000002 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 7/30 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Family_E_III:15 PubMed: Boon 2007 Sister index case (Family_E_III:3) and Family_E_III:14, aunt Family_E_IV:1 F no Netherlands white - - - - 1 Manon Peeters
+?/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Maternal (confirmed) - likely pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.P147fsX4 - PRPH2_000002 - PubMed: Boon 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline yes 7/30 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Family_E_IV:1 PubMed: Boon 2007 Daughter index case (Family_E_III:3), niece Family_E_III:14 end Family_E_III:15 F no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - pathogenic (dominant) g.42689632del g.42721894del c.441del; p.G148Afs*5 - PRPH2_000002 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Unknown - 5/147 MspI+;MvaI- - - DNA MIPsm, SEQ blood - retinal disease Patient 56 (R728) PubMed: Peeters 2021, Journal: Peeters 2021 index case F - Israel Arab - - - - 1 Manon Peeters
+/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - pathogenic (dominant) g.42689632del g.42721894del c.441del; p.G148Afs*5 - PRPH2_000002 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Unknown - 5/147 MspI+;MvaI- - - DNA MIPsm, SEQ blood - retinal disease Patientt 57 (0051_7735) PubMed: Peeters 2021, Journal: Peeters 2021 index case M - United States (white) - - - - 1 Manon Peeters
+/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - pathogenic (dominant) g.42689632del g.42721894del Chr6(GRCh37):g.42689632del; p.(Gly148fs) - PRPH2_000002 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline - 5/147 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Patient 58 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - pathogenic (dominant) g.42689632del g.42721894del Chr6(GRCh37):g.42689632del; p.(Gly148fs) - PRPH2_000002 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline - 5/147 MspI+;MvaI- - - DNA PCR, SEQ blood - retinal disease Patient 59 PubMed: Peeters 2021, Journal: Peeters 2021 Mother index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - pathogenic (dominant) g.42689632del g.42721894del Chr6(GRCh37):g.42689632del; p.(Gly148fs) - PRPH2_000002 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Germline - 5/147 MspI+;MvaI- - - DNA SEQ-NG blood WES retinal disease Patient 60 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - pathogenic (dominant) g.42689632del g.42721894del c.441delT; p.Gly148Alafs*5 - PRPH2_000002 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755784 Unknown - 1/187 MspI+;MvaI- - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 139 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+?/. - c.441del r.(?) p.(Gly148Alafs*5) Parent #1 - likely pathogenic g.42689632del g.42721894del PRPH2, variant 1: c.441del/p.G148Afs*5 - PRPH2_000002 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 997 PubMed: Weisschuh 2020 Filing key number: 458, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic g.42689632del g.42721894del PRPH2 c.441del, p.Gly148Alafs*5 - PRPH2_000002 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 151 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 1 c.441del r.(?) p.(Gly148Alafs*5) Unknown - likely pathogenic g.42689632del g.42721894del PRPH2 c.441del, p.Gly148Alafs*5 - PRPH2_000002 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 156 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
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