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.

26 entries on 1 page. Showing entries 1 - 26.
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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.(118G>A) - p.Gly40Ser - NA g.(68912520C>T) g.(68446837C>T) G40S - RPE65_000049 expression cloning activity <0.02 PubMed: Redmond 2005 - - In vitro (cloned) - - - 0 - LOVD
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Ripamonti 2014 - - Germline yes 2/18 chromosomes BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Jacobson 2012 - - Germline yes - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Pasadhika 2010 - - Germline yes - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Galvin 2005 - - Germline yes 2/110 cases BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Galvin 2005 - - Germline yes 2/110 cases BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 not in 400 controls; unknown variant 2ndchromosome PubMed: Philpa 2009 - - Germline yes - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Jacobson 2009 - - Germline - - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Jacobson 2009 - - Germline - - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Jacobson 2009 - - Germline - - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Jacobson 2008 - - Germline - - MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Jacobson 2007 - - Germline yes - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Simovich 2001 - - Germline yes - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Morimura 1998 - - Germline yes - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Morimura 1998 - - Germline yes - BsrFI-;HpaII-;MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Henderson 2007 - - Germline yes - BsrFI-;HpaII- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Oishi 2014 - - Germline yes - MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - MspI- 0 - Muhammad Ajmal
+?/+? 3 c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic (recessive) g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Jacobson 2007 - - Germline - - MspI- 0 - Muhammad Ajmal
+?/. - c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Maeda 2018 - rs61751281 Germline - - - 0 - LOVD
+?/. - c.118G>A r.(?) p.(Gly40Ser) - likely pathogenic g.68912520C>T g.68446837C>T - - RPE65_000049 - PubMed: Ellingford 2016 - - Germline - - - 0 - LOVD
+/. - c.118G>A r.(?) p.(Gly40Ser) ACMG pathogenic g.68912520C>T g.68446837C>T RPE65 c.[118G>A];[118G>A], V1: c.118G>A, (p.Gly40Ser) - RPE65_000049 homozygous PubMed: Chen 2021 - - Unknown ? - - 0 - LOVD
+/. - c.118G>A r.(?) p.(Gly40Ser) - pathogenic g.68912520C>T g.68446837C>T RPE65 c.118G>A, p.Gly40Ser - RPE65_000049 heterozygous PubMed: Scholl 2015 - - Unknown ? - - 0 - LOVD
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