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.

13 entries on 1 page. Showing entries 1 - 13.
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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.113del r.(?) p.(Gly38Aspfs*4) Unknown ACMG pathogenic g.42689961del g.42722223del - - PRPH2_000288 ACMG PVS1, PM1, PM12,PP1 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Unknown - pathogenic (dominant) g.42689961del g.42722223del c.113delG; p.Gly38Aspfs*4 - PRPH2_000288 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Unknown - 1/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 52 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Unknown - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at position 112 - PRPH2_000288 - PubMed: Moshfeghi 2006, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 2/3 - - - DNA SEQ blood - retinal disease Case2 PubMed: Moshfeghi 2006 index case, mother case 3 F no United States white - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (inferred) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at position 112 - PRPH2_000288 - PubMed: Moshfeghi 2006, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 2/3 - - - DNA SEQ blood - retinal disease Case3 PubMed: Moshfeghi 2006 Daughter index case F no United States white - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_II:5 PubMed: Yang 2003 Brother fam_1_II:7 and fam_1_II:9, uncle fam_1_III:1 and fam_1_III:8 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_II:7 PubMed: Yang 2003 Mother fam_1_III:8, sister fam_1_II:5 and fam_1_II:9, aunt fam_1_III:1 F no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_II:9 PubMed: Yang 2003 Brother fam_1_II:5 and fam_1_II:7, uncle fam_1_III:1 and fam_1_III:8 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_III:1 PubMed: Yang 2003 Cousin fam_1_III:8, father fam_1_IV:2, uncle fam_1_IV:3 and fam_1_IV:3 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_III:8 PubMed: Yang 2003 Mother fam_1_IV:3 and fam_1_IV:4, niece of fam_1_III:1, aunt of fam_1_IV:2 F no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Paternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_IV:2 PubMed: Yang 2003 Son fam_1_III:1, cousin fam_1_III:8/fam_1_IV:3/fam_1_IV:4 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_IV:3 PubMed: Yang 2003 Son fam_1_III:8, brother fam_1_IV:4, cousin fam_1_III:1 and fam_1_IV:2 M no United States - - - - - 1 Manon Peeters
+/+ 1 c.113del r.(?) p.(Gly38Aspfs*4) Maternal (confirmed) - pathogenic (dominant) g.42689961del g.42722223del Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38. - PRPH2_000288 - PubMed: Yang 2003, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755769 Germline yes 8/12 - - - DNA SEQ blood - retinal disease Fam_1_IV:4 PubMed: Yang 2003 Daughter fam_1_III:8, sister fam_1_IV:3, niece fam_1_III:1 and fam_1_IV:2 F no United States - - - - - 1 Manon Peeters
+/. - c.113del r.(?) p.(Gly38Aspfs*4) Unknown - pathogenic g.42689961del g.42722223del PRPH2 c.113del, p.Gly38AspfsTer4 - PRPH2_000288 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 001-437 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
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