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.

42 entries on 1 page. Showing entries 1 - 42.
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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     
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes LpnPI +;BsiWI- - - DNA ? - - LCA - PubMed: Koenekoop 2014 - F ? Brazil Brazilian - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Koenekoop 2014 - - Germline yes 2/14 chromosomes LpnPI +;BsiWI- - - DNA ? - - LCA - PubMed: Koenekoop 2014 - F ? Brazil Brazilian - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - LCA - PubMed: Jacobson 2012 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - LCA - PubMed: Jacobson 2012 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - LCA - PubMed: Jacobson 2012 - M ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Coppieters 2010 - - Germline yes 1/91 cases - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - F no Portugal Portuguese - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Weleber 2011 - - Germline yes - - - - DNA PCR, SEQ - - RD - PubMed: Weleber 2011 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - M no Spain Hispanic - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - M no Spain Hispanic - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2009 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no Spain Hispanic - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2008 - - Germline - - - - - DNA SSCA, SEQ - - LCA - PubMed: Jacobson 2008 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2008 - - Germline - - - - - DNA SSCA, SEQ - - LCA - PubMed: Jacobson 2008 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2005 - - Germline yes - - - - DNA ? - - LCA - PubMed: Jacobson 2005 - F ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Morimura 1998 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - retinal disease - PubMed: Morimura 1998 3-generation family, 5 affected F no Dominican Republic Latin American - - - - 5 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G GCC to ACC - RPE65_000015 - PubMed: Morimura 1998 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - retinal disease - PubMed: Morimura 1998 3-generation family, 5 affected M no Dominican Republic Latin American - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G GCC to ACC - RPE65_000015 - PubMed: Morimura 1998 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - retinal disease - PubMed: Morimura 1998 3-generation family, 5 affected F no Dominican Republic Latin American - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) - likely pathogenic (recessive) g.68903976A>G g.68438293A>G GCC to ACC - RPE65_000015 - PubMed: Morimura 1998 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - retinal disease - PubMed: Morimura 1998 3-generation family, 5 affected M no Dominican Republic Latin American - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Maternal (confirmed) - likely pathogenic (recessive) g.68903976A>G g.68438293A>G GCC to ACC - RPE65_000015 - PubMed: Morimura 1998 - - Germline yes - - - - DNA PCR, SEQ, SSCA - - retinal disease - PubMed: Morimura 1998 3-generation family, 5 affected M no Dominican Republic Latin American - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Wang 2013 - - Germline yes - - - - DNA SEQ-NG-S, PCR, SEQ - - LCA - PubMed: Wang 2013 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - - - DNA SSCA, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Muhammad Ajmal
+?/+? 10 c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) - likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Jacobson 2007 - - Germline - - - - - DNA ? - - LCA - PubMed: Jacobson 2007 - ? ? United States American - - - - 1 Muhammad Ajmal
+/. - c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) - pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Parent #2 - pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Parent #2 - pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Parent #2 - pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Chung 2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Parent #1 - pathogenic (recessive) g.68903976A>G - - - RPE65_000015 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam2PatFBP_EFG PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) - pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 - PubMed: Consugar 2015 - - Germline - - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-391-846 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - pathogenic g.68903976A>G - c.1022T>C - RPE65_000015 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+?/. 10 c.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic g.68903976A>G g.68438293A>G RPE65 Ex.9 c.917C>T p.(Thr306Ile), Ex.10 c.1022T>C p.(Leu341Ser) - RPE65_000015 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2460 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.1022T>C r.(?) p.(Leu341Ser) Both (homozygous) ACMG likely pathogenic g.68903976A>G g.68438293A>G RPE65:NM_000329 c.T1022C, p.L341S - RPE65_000015 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-605 PubMed: Rodriguez-Munoz 2020 family fRPN-235, proband F - Spain - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C; p.Leu341Ser - RPE65_000015 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 85 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C; p.Leu341Ser - RPE65_000015 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.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C; p.Leu341Ser - RPE65_000015 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.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C; p.Leu341Ser - RPE65_000015 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 78 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C; p.Leu341Ser - RPE65_000015 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 78 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C; p.Leu341Ser - RPE65_000015 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 82 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C; p.Leu341Ser - RPE65_000015 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.1022T>C r.(?) p.(Leu341Ser) Unknown - likely pathogenic g.68903976A>G g.68438293A>G RPE65 c.1022T>C, p.L341S - RPE65_000015 heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease Ar-782-04 PubMed: Wiszniewski 2011 family Ar-782 ? - United States - - - - - 1 LOVD
+?/. - c.1022T>C r.(?) p.(Leu341Ser) Unknown ACMG likely pathogenic (recessive) g.68903976A>G g.68438293A>G - - RPE65_000015 ACMG PP3, PM2, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1067 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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