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.

34 entries on 1 page. Showing entries 1 - 34.
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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     

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Owner     
+/. - c.623G>A r.(?) p.(Gly208Asp) Unknown - pathogenic g.42672308C>T g.42704570C>T - - PRPH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.623G>A r.(?) p.(Gly208Asp) Parent #1 - likely pathogenic g.42672308C>T g.42704570C>T - - PRPH2_000028 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+/. - c.623G>A r.(?) p.(Gly208Asp) Unknown - pathogenic (dominant) g.42672308C>T g.42704570C>T 6:42672308C>T ENST00000230381.5:c.623G>A (Gly208Asp) - PRPH2_000028 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000253 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 2 c.623G>A r.(?) p.(Gly208Asp) Parent #1 - pathogenic (dominant) g.42672308C>T g.42704570C>T - - PRPH2_000028 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat125 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. 2 c.623G>A r.(?) p.(Gly208Asp) Unknown ACMG likely pathogenic g.42672308C>T g.42704570C>T - - PRPH2_000028 ACMG PS4, PM1, PP1, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic (dominant) g.42672308C>T g.42704570C>T c.623G>A; p.G208D - PRPH2_000028 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Unknown - 4/147 +MaeII; +AatII; -HgaI - - DNA MIPsm, SEQ blood - retinal disease Patient 94 (OPH1543) PubMed: Peeters 2021, Journal: Peeters 2021 index case F - France white - - - - 1 Manon Peeters
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic (dominant) g.42672308C>T g.42704570C>T Chr6(GRCh37):g.42672308C>T; p.(Gly208Asp) - PRPH2_000028 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline - 4/147 +MaeII; +AatII; -HgaI - - DNA PCR, SEQ blood - retinal disease Patient 95 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic (dominant) g.42672308C>T g.42704570C>T Chr6(GRCh37):g.42672308C>T; p.(Gly208Asp) - PRPH2_000028 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline - 4/147 +MaeII; +AatII; -HgaI - - DNA PCR, SEQ blood - retinal disease Patient 96 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic (dominant) g.42672308C>T g.42704570C>T G623A; G208D - PRPH2_000028 - PubMed: de Breuk 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Unknown - 1/4740 +MaeII; +AatII; -HgaI - - DNA MIPsm, PCR, SEQ blood - retinal disease Patient 97 (MARS_502000308) PubMed: de Breuk 2020 index case - no Netherlands white - - - - 1 Manon Peeters
?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - VUS g.42672308C>T g.42704570C>T Gly208Asp - PRPH2_000028 - PubMed: Kohl 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline yes 1/76 cases +MaeII; +AatII; -HgaI - - DNA PCR, SSCA, SEQ blood - retinal disease Family_Bu_II:2 PubMed: Kohl 1997 index case not indicated. Mother Family_Bu_III:1 F no Germany white - - - - 1 Manon Peeters
?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Maternal (confirmed) - VUS g.42672308C>T g.42704570C>T Gly208Asp - PRPH2_000028 - PubMed: Kohl 1997, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline yes 1/76 cases +MaeII; +AatII; -HgaI - - DNA PCR, SSCA, SEQ blood - retinal disease Family_Bu_III:1 PubMed: Kohl 1997 index case not indicated. Son Family_Bu_II:1 M no Germany white - - - - 1 Manon Peeters
+/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - pathogenic (dominant) g.42672308C>T g.42704570C>T c.GGC(r)GAC; G208D - PRPH2_000028 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline yes 1/93 cases +MaeII; +AatII; -HgaI - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown 1 PubMed: Trujillo 1998 Unknown 1 - unknown 4 belong to the same family - - Spain white - - - - 1 Manon Peeters
+/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - pathogenic (dominant) g.42672308C>T g.42704570C>T c.GGC(r)GAC; G208D - PRPH2_000028 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline yes 1/93 cases +MaeII; +AatII; -HgaI - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown 2 PubMed: Trujillo 1998 Unknown 1 - unknown 4 belong to the same family - - Spain white - - - - 1 Manon Peeters
+/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - pathogenic (dominant) g.42672308C>T g.42704570C>T c.GGC(r)GAC; G208D - PRPH2_000028 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline yes 1/93 cases +MaeII; +AatII; -HgaI - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown 3 PubMed: Trujillo 1998 Unknown 1 - unknown 4 belong to the same family - - Spain white - - - - 1 Manon Peeters
+/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - pathogenic (dominant) g.42672308C>T g.42704570C>T c.GGC(r)GAC; G208D - PRPH2_000028 - PubMed: Trujillo 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline yes 1/93 cases +MaeII; +AatII; -HgaI - - DNA PCR, SSCA, SEQ blood - retinal disease Unknown 4 PubMed: Trujillo 1998 Unknown 1 - unknown 4 belong to the same family - - Spain white - - - - 1 Manon Peeters
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic (dominant) g.42672308C>T g.42704570C>T c.860 GGC>GAC; p.Gly208Asp - PRPH2_000028 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Unknown - 1/61 cases +MaeII; +AatII; -HgaI - - DNA DGGE, PCR, SEQ blood - retinal disease B-263 PubMed: Gamundi 2007 index case - - Spain white - - - - 1 Manon Peeters
?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - VUS g.42672308C>T g.42704570C>T c.623G>A (Gly208Asp) - PRPH2_000028 - PubMed: Duncan 2011, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Unknown - 1/31 +MaeII; +AatII; -HgaI - - DNA PCR, SEQ blood - retinal disease Patient 3 PubMed: Duncan 2011 index case - - United States - - - - - 1 Manon Peeters
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Paternal (inferred) - likely pathogenic (dominant) g.42672308C>T g.42704570C>T c.623G>A; p.Gly208Asp - PRPH2_000028 - PubMed: Manes 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline no 1/310 cases +MaeII; +AatII; -HgaI - - DNA PCR, SEQ blood - retinal disease PHRC301_II:1 PubMed: Manes 2015 index case F no France white - - - - 1 Manon Peeters
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic (dominant) g.42672308C>T g.42704570C>T c.623G>A; p.(Gly208Asp) - PRPH2_000028 - PubMed: Martin-Merida 2018, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Germline - 1/258 families +MaeII; +AatII; -HgaI - - DNA SSCA, DGGE, SEQ-NG-I blood - retinal disease Family_1 PubMed: Martin-Merida 2018 index case. The authors don't show how many family members carry this variant, only mentioned it was present in one family they studied - - Spain white - - - - 1 Manon Peeters
+/+? 2 c.623G>A r.(?) p.(Gly208Asp) Both (homozygous) - pathogenic g.42672308C>T g.42704570C>T c.623G>A; p.Gly208Asp - PRPH2_000028 - PubMed: Palma 2019 , PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Unknown - 1/3 cases +MaeII; +AatII; -HgaI - - DNA PCR, SEQ blood - retinal disease Patient 1 PubMed: Palma 2019 index case M - Brazil Afro-American - - - - 1 Manon Peeters
+?/+? 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic (dominant) g.42672308C>T g.42704570C>T 623G>A ; p.Gly208Asp - PRPH2_000028 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs139185976 Unknown - 1/187 +MaeII; +AatII; -HgaI - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 42 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+?/. - c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic g.42672308C>T - - - PRPH2_000028 - - - rs139185976 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.623G>A r.(?) p.(Gly208Asp) Unknown ACMG pathogenic g.42672308C>T g.42704570C>T PRPH2 c.623G>A, p.(Gly208Asp) - PRPH2_000028 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 192 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.623G>A r.(?) p.(Gly208Asp) Unknown ACMG pathogenic g.42672308C>T g.42704570C>T PRPH2,ROM1 c.623G>A, p.(Gly208Asp), ROM1 c.629A>T, p.(Asp210Val), ABCA4 c.6230G>A, p.(Arg2077Gln) - PRPH2_000028 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 201 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.623G>A r.(?) p.(Gly208Asp) Unknown - VUS g.42672308C>T g.42704570C>T PRPH2 c.623G>A, p.Gly208Asp - PRPH2_000028 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI701_001399 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.623G>A r.(?) p.(Gly208Asp) Parent #1 - likely pathogenic g.42672308C>T g.42704570C>T PRPH2, variant 1: c.623G>A/p.G208D - PRPH2_000028 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 635 PubMed: Weisschuh 2020 Filing key number: 227, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.623G>A r.(?) p.(Gly208Asp) Parent #1 - likely pathogenic g.42672308C>T g.42704570C>T PRPH2, variant 1: c.623G>A/p.G208D - PRPH2_000028 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 636 PubMed: Weisschuh 2020 Filing key number: 227, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.623G>A r.(?) p.(Gly208Asp) Parent #1 - likely pathogenic g.42672308C>T g.42704570C>T PRPH2, variant 1: c.623G>A/p.G208D - PRPH2_000028 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 666 PubMed: Weisschuh 2020 Filing key number: 237, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.623G>A r.(?) p.(Gly208Asp) Parent #1 - likely pathogenic g.42672308C>T g.42704570C>T PRPH2, variant 1: c.623G>A/p.G208D - PRPH2_000028 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 667 PubMed: Weisschuh 2020 Filing key number: 237, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.623G>A r.(?) p.(Gly208Asp) Unknown - likely pathogenic g.42672308C>T g.42704570C>T PRPH2 c.623G>A, p.Gly208Asp - PRPH2_000028 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000253 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. 2 c.623G>A r.(?) p.(Gly208Asp) Unknown - pathogenic g.42672308C>T - c.623G>A - PRPH2_000028 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
?/. - c.623G>A r.(?) p.(Gly208Asp) Unknown ACMG likely pathogenic (dominant) g.42672308C>T - - - PRPH2_000028 - PubMed: Bianco 2023 - - Unknown - - - - - DNA SEQ-NG-I Peripheral Blood Sample - CACD2 IV.1 PubMed: Bianco 2023 - F no Italy Italian - - - - 1 Lorenzo Bianco
?/. - c.623G>A r.(?) p.(Gly208Asp) Both (homozygous) ACMG likely pathogenic (dominant) g.42672308C>T - - - PRPH2_000028 - PubMed: Bianco 2023 - - Unknown - - - - - DNA SEQ-NG-I Peripheral Blood Sample - CACD2 V.1 PubMed: Bianco 2023 - F no Italy Italian - - - - 1 Lorenzo Bianco
+/. 2 c.623G>A r.(?) p.(Gly208Asp) Parent #1 ACMG pathogenic g.42672308C>T g.42704570C>T - - PRPH2_000028 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066816 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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