Full data view for gene RPE65

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 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     
+?/+? 14 c.1543C>T r.(?) p.(Arg515Trp) Both (homozygous) - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Katagiri 2014 - - Germline yes 4/14 chromosomes BstNI+;HpaII-;MspI-;NciI-;SmaI-;;XmaI- - - DNA PCR, SEQ, SEQ-NG-I - - LCA JU#0756 (Case 2) PubMed: Katagiri 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Japan Japan - - - - 1 Muhammad Ajmal
+?/+? 14 c.1543C>T r.(?) p.(Arg515Trp) Both (homozygous) - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Kondo 2004 - - Germline yes - BstNI+;HpaII-;MspI-;NciI-;SmaI-;;XmaI- - - DNA PCRm, SEQ - - LCA Pat03901 PubMed: Kondo 2004 3-generation family, 1 affected F yes Japan Japanese - - - - 1 Muhammad Ajmal
+?/+? 14 c.1543C>T r.(?) p.(Arg515Trp) Both (homozygous) - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Oishi 2014 - - Germline yes - BstNI+ - - DNA arraySEQ, PCR, SEQ - - retinal disease - ? - ? ? Japan Japanese - - - - 1 Muhammad Ajmal
+?/+? 14 c.1543C>T r.(?) p.(Arg515Trp) Unknown - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Oishi 2014 - - Germline yes - BstNI+ - - DNA arraySEQ, PCR, SEQ - - retinal disease - ? - ? ? Japan Japanese - - - - 1 Muhammad Ajmal
+?/+? 14 c.1543C>T r.(?) p.(Arg515Trp) Unknown - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - MspI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+/. - c.1543C>T r.(?) p.(Arg515Trp) Unknown - pathogenic g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121917745 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+/. - c.1543C>T r.(?) p.(Arg515Trp) Both (homozygous) - pathogenic g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121917745 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+?/. 14 c.1543C>T r.(?) p.(Arg515Trp) Paternal (confirmed) - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - - - - Germline yes - - - - DNA SEQ-NG blood WES LCA - - - M no Korea - - - - - 1 Jinu Han
+?/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #1 - likely pathogenic g.68895518G>A g.68429835G>A - - RPE65_000121 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121917745 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Hull 2016 - - Germline - - - - - DNA SEQ - - retinal disease GC14577-Pat2 PubMed: Hull 2016 - M - United States - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - likely pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Hull 2016 - - Germline - - - - - DNA SEQ - - retinal disease GC130-Pat3 PubMed: Hull 2016 - M - United States - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #1 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Katagiri 2017 - rs121917745 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease JU#1085 PubMed: Katagiri 2017 - M - Japan - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease F03PatII2 PubMed: Li 2019 - M - China - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ - - retinal disease F03PatII3 PubMed: Li 2019 - F - China - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Li 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease F04PatII1 PubMed: Li 2019 - F - China - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 - pathogenic (recessive) g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Pierrache 2020 - - Germline - - - - - DNA SEQ - - retinal disease PatZ1 PubMed: Pierrache 2020 study natural history disease; individual possibly reported before F - - - - - - - 1 LOVD
?/. - c.1543C>T r.(?) p.(Arg515Trp) Both (homozygous) - VUS g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 171 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Both (homozygous) - pathogenic g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K1889 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #1 - likely pathogenic g.68895518G>A g.68429835G>A - - RPE65_000121 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6282 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+?/. - c.1543C>T r.(?) p.(Arg515Trp) Unknown ACMG VUS g.68895518G>A - - - RPE65_000121 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - LCA IR_SH_0015 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.1543C>T r.(?) p.(Arg515Trp) Unknown - likely pathogenic g.68895518G>A g.68429835G>A c.1543C>T, p.(Arg515Trp) - RPE65_000121 compound heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14947 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Parent #2 ACMG pathogenic g.68895518G>A g.68429835G>A RPE65 NM_000329: g.20125C>T, c.1543C>T, p.R515W - RPE65_000121 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19390 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. - c.1543C>T r.(?) p.(Arg515Trp) Paternal (confirmed) ACMG likely pathogenic (recessive) g.68895518G>A g.68429835G>A c.1543C>T:p.(Arg515Trp) - RPE65_000121 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 31 PubMed: Surl 2020 - M - Korea - - - - - 1 LOVD
+?/. - c.1543C>T r.(?) p.(Arg515Trp) Unknown ACMG likely pathogenic g.68895518G>A g.68429835G>A RPE65 c.259G>A(;)1543C>T, V1: c.1543C>T, (p.Arg515Trp) - RPE65_000121 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F134 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. 14 c.1543C>T r.(?) p.(Arg515Trp) Both (homozygous) - pathogenic (recessive) g.68895518G>A - c.1543C>T:p.R515W - RPE65_000121 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Arg515Trp) Unknown - pathogenic g.68895518G>A - RPE65(NM_000329.3):c.1543C>T (p.R515W) - RPE65_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1543C>T r.(?) p.(Arg515Trp) Unknown - likely pathogenic g.68895518G>A g.68429835G>A RPE65 c.259G>A(;)1543C>T; p.(Arg515Trp) - RPE65_000121 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000804 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F134 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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