All variants in the RPE65 gene

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.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.(131G>A) - p.Arg44Gln - NA g.(68912507C>T) g.(68446824C>T) R44Q - RPE65_000036 expression cloning activity <0.02 PubMed: Redmond 2005 - - In vitro (cloned) - - - 0 - LOVD
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2012 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Coppieters 2010 - - Germline yes 1/91 cases TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Hauswirth 2008 - - Germline yes 1/3 cases TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 not in 400 controls PubMed: Philpa 2009 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 not in 400 controls PubMed: Philpa 2009 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Philpa 2009 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2009 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2009 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2009 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2008 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2008 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2005 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Hanein 2004 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Simovich 2001 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2007 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2007 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 3 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Jacobson 2007 - - Germline - - TaqI- 0 - Muhammad Ajmal
+?/+? 9 c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Philpa 2009 - - Germline yes - TaqI- 0 - Muhammad Ajmal
+/. - c.131G>A r.(?) p.(Arg44Gln) - pathogenic g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - Johan den Dunnen
+/. - c.131G>A r.(?) p.(Arg44Gln) - pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Li 2019 - - Germline - - - 0 - LOVD
+/. - c.131G>A r.(?) p.(Arg44Gln) - pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.131G>A r.(?) p.(Arg44Gln) - pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+?/. - c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Ellingford 2016 - - Germline - - - 0 - LOVD
+?/. - c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
+?/. - c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Patel 2016 - - Germline - - - 0 - LOVD
+/. - c.131G>A r.(?) p.(Arg44Gln) - pathogenic (recessive) g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Maria 2015 - - Germline - - - 0 - LOVD
+?/. - c.131G>A r.(?) p.(Arg44Gln) - likely pathogenic g.68912507C>T g.68446824C>T c.131C>T, p.(Arg44Gln) - RPE65_000036 error in annotation: c.131C>T instead of G>A, compound heterozygous PubMed: Wang 2019 - - Germline yes - - 0 - LOVD
+?/. - c.131G>A r.(?) p.(Arg44Gln) ACMG likely pathogenic g.68912507C>T g.68446824C>T RPE65 NM_000329: g.3136G>A, c.131G>A, p.R44Q - RPE65_000036 single heterozygous PubMed: Xu 2020 - - Unknown ? - - 0 - LOVD
+?/. 3 c.131G>A r.(?) p.(Arg44Gln) ACMG likely pathogenic g.68912507C>T g.68446824C>T RPE65 c.131G>A, p.(Arg44Gln) - RPE65_000036 homozygous PubMed: Dan 2020 - - Germline yes - - 0 - LOVD
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