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.

36 entries on 1 page. Showing entries 1 - 36.
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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     
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes LpnPI +;BsiWI- - - DNA ? - - LCA - PubMed: Koenekoop 2014 - F ? Brazil Brazilian - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes LpnPI +;BsiWI- - - DNA ? - - LCA - PubMed: Koenekoop 2014 - F ? Brazil Brazilian - - - - 1 Muhammad Ajmal
-/- 4 c.272G>A r.(?) p.(Arg91Gln) Both (homozygous) - benign g.68910540C>T g.68444857C>T - - RPE65_000081 not in 400 controls PubMed: Philpa 2009 - - Germline yes - LpnPI+;BsiWI- - - DNA RT-PCR, HPLC, PAGE - - LCA - PubMed: Philpa 2009 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no - white - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no - white - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no India Black Indian - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2009 - - Germline - - LpnPI+;BsiWI- - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - M no India Black Indian - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2008 - - Germline - - LpnPI+;BsiWI- - - DNA SSCA, SEQ - - LCA - PubMed: Jacobson 2008 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline yes - LpnPI+;BsiWI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Simovich 2001 - - Germline yes - LpnPI+;BsiWI- - - DNA PCR, SEQ, Southern - - LCA - PubMed: Simovich 2001 - ? ? - ? - - - - 1 Muhammad Ajmal
-/- 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - benign g.68910540C>T g.68444857C>T 326G->A - RPE65_000081 - PubMed: Thompson 2000 - - Germline yes - SunI+ - - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - LpnPI+;BsiWI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - LpnPI+;BsiWI- - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline - - LpnPI+;BsiWI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline - - LpnPI+;BsiWI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+?/+? 4 c.272G>A r.(?) p.(Arg91Gln) Unknown - likely pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Jacobson 2007 - - Germline - - LpnPI+;BsiWI- - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+/. - c.272G>A r.(?) p.(Arg91Gly) Parent #1 - pathogenic (recessive) g.68910540C>T g.68444857C>T R91Q - RPE65_000081 - PubMed: Zhong 2019 - - Germline - - - - - DNA SEQ - - retinal disease Fam20041PatII1 PubMed: Zhong 2019 2-generation family, 1 affected, unaffected parents M no China - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #1 - pathogenic (recessive) g.68910540C>T g.68444857C>T R91Q - RPE65_000081 - PubMed: Zhong 2019 - - Germline - - - - - DNA SEQ - - retinal disease Fam20077PatII1 PubMed: Zhong 2019 3-generation family, 2 affected (F, M), unaffected parents F no China - - - - - 2 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #1 - pathogenic (recessive) g.68910540C>T g.68444857C>T R91Q - RPE65_000081 - PubMed: Zhong 2019 - - Germline - - - - - DNA SEQ - - retinal disease Fam20077PatII3 PubMed: Zhong 2019 sister M no China - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #1 - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Both (homozygous) - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #1 - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #2 - pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #2 - pathogenic (recessive) g.68910540C>T - - - RPE65_000081 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam2PatFBP_EFG PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Parent #2 - likely pathogenic g.68910540C>T g.68444857C>T - - RPE65_000081 - PubMed: Soens 2017 - - Germline - - - - - DNA SEQ - - retinal disease JMS_010 PubMed: Soens 2017 possible duplicate - - - - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Parent #2 - likely pathogenic g.68910540C>T g.68444857C>T - - RPE65_000081 - - - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease W115-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #2 ACMG pathogenic g.68910540C>T g.68444857C>T RPE65 NM_000329: g.5103G>A, c.272G>A, p.R91Q - RPE65_000081 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19774 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 76 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 76 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 77 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 77 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 84 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 homozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 123 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG likely pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A; p.Arg91GIn - RPE65_000081 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 126 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Parent #2 - pathogenic g.68910540C>T g.68444857C>T RPE65 c.272G>A, p.Arg91Gln - RPE65_000081 heterozygous PubMed: Scholl 2015 - - Unknown ? - - - - DNA ? - patients already genotyped for clinical trials retinal disease 502 PubMed: Scholl 2015 F - - - - - - - daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001) 1 LOVD
+/. - c.272G>A r.(?) p.(Arg91Gln) Unknown ACMG pathogenic (recessive) g.68910540C>T g.68444857C>T - - RPE65_000081 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? LCA-25 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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