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.

20 entries on 1 page. Showing entries 1 - 20.
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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.658C>T r.(?) p.(Arg220Trp) Unknown - VUS g.42672273G>A g.42704535G>A - - PRPH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658C>T r.(?) p.(Arg220Trp) Unknown - pathogenic g.42672273G>A g.42704535G>A - - PRPH2_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs61755809 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.658C>T r.(?) p.(Arg220Trp) Parent #1 - pathogenic (dominant) g.42672273G>A g.42704535G>A - - PRPH2_000023 - PubMed: Zhou 2018 - rs61755809 Germline - - - - - DNA SEQ-NG - WES retinal disease 690737F PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+/. 2 c.658C>T r.(?) p.(Arg220Trp) Parent #1 - pathogenic (dominant) g.42672273G>A g.42704535G>A - - PRPH2_000023 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat126 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 2 c.658C>T r.(?) p.(Arg220Trp) Parent #1 - pathogenic (dominant) g.42672273G>A g.42704535G>A - - PRPH2_000023 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat136 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 2 c.658C>T r.(?) p.(Arg220Trp) Unknown ACMG pathogenic g.42672273G>A g.42704535G>A - - PRPH2_000023 ACMG PS3, PM1, PM2, PM5, PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755809 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - pathogenic (dominant) g.42672273G>A g.42704535G>A Chr6(GRCh37):g.42672273G>A; p.(Arg220Trp) - PRPH2_000023 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755809 Germline - 1/147 - - - DNA PCR, SEQ blood - retinal disease Patient 108 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
?/+ 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - VUS g.42672273G>A g.42704535G>A Arg220Trp - PRPH2_000023 - PubMed: Payne 1998, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755809 Germline yes 1/300 - - - DNA PCR, HD, SEQ blood - retinal disease Family 13 PubMed: Payne 1998 index case not indicated, nor the number of affected family members that carry the variant - - United Kingdom (Great Britain) white - - - - 1 Manon Peeters
+?/+ 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - likely pathogenic (dominant) g.42672273G>A g.42704535G>A 895 CGG>TGG; Arg220Trp - PRPH2_000023 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755809 Germline yes 1/61 cases - - - DNA DGGE, PCR, SEQ blood - retinal disease B-197_ II:2 (proband) PubMed: Gamundi 2007 index case M no Spain white - - - - 1 Manon Peeters
+?/+ 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - likely pathogenic (dominant) g.42672273G>A g.42704535G>A 895 CGG>TGG; Arg220Trp - PRPH2_000023 - PubMed: Gamundi 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755809 Germline yes 1/61 cases - - - DNA DGGE, PCR, SEQ blood - retinal disease B-197_ II:3 PubMed: Gamundi 2007 Sister index case F no Spain white - - - - 1 Manon Peeters
+?/+ 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - likely pathogenic (dominant) g.42672273G>A g.42704535G>A c.658C>T (p.Arg220Trp) - PRPH2_000023 - PubMed: Leroy 2007, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755809 Germline - 1/6 - - - DNA PCR, SEQ blood - retinal disease FamilyB_II:1 PubMed: Leroy 2007 index case M no United Kingdom (Great Britain) white - - - - 1 Manon Peeters
?/+ 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - VUS g.42672273G>A g.42704535G>A c.658C>T; p.Arg220Trp - PRPH2_000023 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs61755809 Unknown - 1/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 90 PubMed: Reeves 2020 index case F - United States (white) - - - - 1 Manon Peeters
+?/. - c.658C>T r.(?) p.(Arg220Trp) Unknown ACMG VUS g.42672273G>A - - - PRPH2_000023 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SH_0038 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - likely pathogenic g.42672273G>A - c.658C>T - PRPH2_000023 - PubMed: Zhou-2011 - rs61755809 Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
+/. 2 c.658C>T r.(?) p.(Arg220Trp) Unknown ACMG pathogenic g.42672273G>A g.42704535G>A NM_000322.4:c.658C>T, NP_000313.2:p.(Arg220Trp), NC_000006.11:g.42672273G>A - PRPH2_000023 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016060103 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
?/. - c.658C>T r.(?) p.(Arg220Trp) Unknown ACMG VUS g.42672273G>A g.42704535G>A PRPH2 c.658C>T, p.(Arg220Trp) - PRPH2_000023 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 451 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.658C>T r.(?) p.(Arg220Trp) Unknown - likely pathogenic g.42672273G>A g.42704535G>A PRPH2 c.658C>T, p.Arg220Trp - PRPH2_000023 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2888_004473 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 2 c.658C>T r.(?) p.(Arg220Trp) Unknown - likely pathogenic g.42672273G>A g.42704535G>A PRPH2 c.658C>T, p.Arg220Trp - PRPH2_000023 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 153 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 2 c.658C>T r.? p.(Arg220Trp) Unknown - likely pathogenic (dominant) g.42672273G>A - c.658C>T - PRPH2_000023 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG, SEQ - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 2 c.658C>T r.(?) p.Arg220Trp Unknown - pathogenic g.42672273G>A - c.658C>T/p.R220W - PRPH2_000023 leads to pattern dystrophy PubMed: Becirovic-2016 - - In silico - - - - - - - - - - - - - - - - - - - - - - -
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