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.

30 entries on 1 page. Showing entries 1 - 30.
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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.499G>A r.(?) p.(Gly167Ser) Unknown - pathogenic g.42689574C>T g.42721836C>T - - PRPH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.499G>A r.(?) p.(Gly167Ser) Unknown - pathogenic g.42689574C>T g.42721836C>T - - PRPH2_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236098 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.499G>A r.(?) p.(Gly167Ser) Unknown - likely pathogenic g.42689574C>T g.42721836C>T - - PRPH2_000037 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 889 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. 1 c.499G>A r.(?) p.(Gly167Ser) Unknown ACMG pathogenic g.42689574C>T g.42721836C>T - - PRPH2_000037 ACMG PS3, PM1, PM2, PP1_strong_PP3 PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - pathogenic (dominant) g.42689574C>T g.42721836C>T Chr6(GRCh37):g.42689574C>T; p.(Gly167Ser) - PRPH2_000037 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Germline - 2/147 - - - DNA PCR, SEQ blood - retinal disease Patient 63 PubMed: Peeters 2021, Journal: Peeters 2021 index case - no Netherlands white - - - - 1 Manon Peeters
+/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - pathogenic (dominant) g.42689574C>T g.42721836C>T c.499G>A; p.G167S - PRPH2_000037 - PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Unknown - 2/147 - - - DNA MIPsm, SEQ blood - retinal disease Patient 64 (IRD5672) PubMed: Peeters 2021, Journal: Peeters 2021 index case - - Australia white - - - - 1 Manon Peeters
+?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - likely pathogenic (dominant) g.42689574C>T g.42721836C>T c.497G>A; G167S - PRPH2_000037 - PubMed: Testa 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Germline yes 3/8 - - - DNA arraySNP blood - retinal disease Family1_I:1 PubMed: Testa 2005 index case, father of family1_II:1 and family1_II:2 M no Italy white - - - - 1 Manon Peeters
+?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Paternal (confirmed) - likely pathogenic (dominant) g.42689574C>T g.42721836C>T c.497G>A; G167S - PRPH2_000037 - PubMed: Testa 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Germline yes 3/8 - - - DNA arraySNP blood - retinal disease Family1_II:1 PubMed: Testa 2005 Daughter in index case, sister of family1_II:2 F no Italy white - - - - 1 Manon Peeters
+?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Paternal (confirmed) - likely pathogenic (dominant) g.42689574C>T g.42721836C>T c.497G>A; G167S - PRPH2_000037 - PubMed: Testa 2005, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Germline yes 3/8 - - - DNA arraySNP blood - retinal disease Family1_II:2 PubMed: Testa 2005 Daughter index case, sister of family1_II:1 F no Italy white - - - - 1 Manon Peeters
?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - VUS g.42689574C>T g.42721836C>T p.Gly167Ser - PRPH2_000037 - PubMed: Meunier 2011, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Unknown - 1/44 - - - DNA PCR, SEQ blood - retinal disease Adult vitelliform macular dystrophy_patient 5 PubMed: Meunier 2011 index case F - France white - - - - 1 Manon Peeters
+?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - likely pathogenic (dominant) g.42689574C>T g.42721836C>T p.G167S - PRPH2_000037 - PubMed: Strom 2012, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Unknown - 1/9 - - - DNA SEQ-NG blood WES retinal disease STGD-04 PubMed: Strom 2012 index case M - United States - - - - - 1 Manon Peeters
?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - VUS g.42689574C>T g.42721836C>T p.Gly167Ser - PRPH2_000037 - PubMed: Glöckle 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Unknown no 1/170 - - - DNA PCR, SEQ, SEQ-NG blood - retinal disease 606 PubMed: Glöckle 2014 index case - - Germany white - - - - 1 Manon Peeters
?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - VUS g.42689574C>T g.42721836C>T p.Gly167Ser - PRPH2_000037 - PubMed: Oishi 2014, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Unknown - 1/329 - - - DNA PCR, SEQ, SEQ-NG blood - retinal disease K6274 PubMed: Oishi 2014 index case - - Japan Asia - - - - 1 Manon Peeters
+/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - pathogenic (dominant) g.42689574C>T g.42721836C>T c.499 G>A; p.(G167S) - PRPH2_000037 - PubMed: Zaneveld 2015, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Unknown - 1/88 - - - DNA SEQ-NG-I blood - retinal disease 57 / FC PubMed: Zaneveld 2015 index case - - Canada French Canadian - - - - 1 Manon Peeters
+/+ 1 c.499G>A r.(?) p.(Gly167Ser) Maternal (inferred) - pathogenic (dominant) g.42689574C>T g.42721836C>T p.Gly167Ser - PRPH2_000037 - PubMed: Coco-Martin 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Germline yes 3/24 - - - DNA PCR, SEQ blood - retinal disease Family_4_III-1 PubMed: Coco-Martin 2020 index case, mother of Family_4_IV-1 and Family_4_IV-2 F no Spain white - - - - 1 Manon Peeters
+/+ 1 c.499G>A r.(?) p.(Gly167Ser) Maternal (confirmed) - pathogenic (dominant) g.42689574C>T g.42721836C>T p.Gly167Ser - PRPH2_000037 - PubMed: Coco-Martin 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Germline yes 3/24 - - - DNA PCR, SEQ blood - retinal disease Family_4_IV-1 PubMed: Coco-Martin 2020 Daughter index case, sister of Family_4_IV-2 F no Spain white - - - - 1 Manon Peeters
+/+ 1 c.499G>A r.(?) p.(Gly167Ser) Maternal (confirmed) - pathogenic (dominant) g.42689574C>T g.42721836C>T p.Gly167Ser - PRPH2_000037 - PubMed: Coco-Martin 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Germline yes 3/24 - - - DNA PCR, SEQ blood - retinal disease Family_4_IV-2 PubMed: Coco-Martin 2020 Daughter index case, sister of Family_4_IV-1 F no Spain white - - - - 1 Manon Peeters
+?/+ 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - likely pathogenic (dominant) g.42689574C>T g.42721836C>T c.499G>A; p.Gly167Ser - PRPH2_000037 - PubMed: Reeves 2020, PubMed: Peeters 2021, Journal: Peeters 2021 - rs527236098 Unknown - 1/187 - - - DNA PCR, SEQ, SEQ-NG-I blood - retinal disease 147 PubMed: Reeves 2020 index case M - United States (white) - - - - 1 Manon Peeters
+/. 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - pathogenic g.42689574C>T - RDS:499G>A - PRPH2_000037 - PubMed: Jin 2008 - - Unknown - - - - - DNA DHPLC blood - retinal disease - PubMed: Jin 2008 - - - Japan - - - - - 1 LOVD
+/. 1 c.499G>A r.(?) p.(Gly167Ser) Unknown - pathogenic g.42689574C>T - p.G167S - PRPH2_000037 - PubMed: Meunier 2011 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Meunier 2011 - F no - - - - - - 1 LOVD
+?/. - c.499G>A r.(?) p.(Gly167Ser) Unknown ACMG VUS g.42689574C>T - - - PRPH2_000037 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0151 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.499G>A r.(?) p.(Gly167Ser) Unknown ACMG pathogenic g.42689574C>T g.42721836C>T PRPH2:NM_000322 c.G499A, p.G167S - PRPH2_000037 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-304 PubMed: Rodriguez-Munoz 2020 family fRPN-144, proband F - Spain - - - - - 1 LOVD
+/. - c.499G>A r.(?) p.(Gly167Ser) Unknown ACMG pathogenic g.42689574C>T g.42721836C>T c.499G>A; p.(Gly167Ser) - PRPH2_000037 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-415 PubMed: Rodriguez-Munoz 2020 family fRPN-144, family member F - Spain - - - - - 1 LOVD
+/. - c.499G>A r.(?) p.(Gly167Ser) Unknown ACMG pathogenic g.42689574C>T g.42721836C>T c.499G>A; p.(Gly167Ser) - PRPH2_000037 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-416 PubMed: Rodriguez-Munoz 2020 family fRPN-144, family member F - Spain - - - - - 1 LOVD
+?/. - c.499G>A r.(?) p.(Gly167Ser) Parent #1 - likely pathogenic g.42689574C>T g.42721836C>T PRPH2, variant 1: c.499G>A/p.G167S - PRPH2_000037 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 670 PubMed: Weisschuh 2020 Filing key number: 239, Stargardt Disease, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.499G>A r.(?) p.(Gly167Ser) Parent #1 - likely pathogenic g.42689574C>T g.42721836C>T PRPH2, variant 1: c.499G>A/p.G167S - PRPH2_000037 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 706 PubMed: Weisschuh 2020 Filing key number: 262, macular dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.499G>A r.(?) p.(Gly167Ser) Parent #1 - likely pathogenic g.42689574C>T g.42721836C>T PRPH2, variant 1: c.499G>A/p.G167S - PRPH2_000037 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 1091 PubMed: Weisschuh 2020 Filing key number: 727, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.499G>A r.(?) p.(Gly167Ser) Parent #1 - likely pathogenic g.42689574C>T g.42721836C>T PRPH2, variant 1: c.499G>A/p.G167S - PRPH2_000037 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1233 PubMed: Weisschuh 2020 Filing key number: 984, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.499G>A r.(?) p.(Gly167Ser) Unknown ACMG pathogenic (dominant) g.42689574C>T g.42721836C>T - - PRPH2_000037 ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? CRD-818 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.499G>A r.(?) p.(Gly167Ser) Parent #1 ACMG pathogenic g.42689574C>T g.42721836C>T - - PRPH2_000037 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074718 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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