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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+?/+? 3 c.179T>C r.(?) p.(Leu60Pro) - likely pathogenic (recessive) g.68912459A>G g.68446776A>G - - RPE65_000043 - PubMed: Kabir 2013 - - Germline yes 9/440 chromosomes BslI+;LpnPI- 0 - Muhammad Ajmal
+?/+? 3 c.179T>C r.(?) p.(Leu60Pro) - likely pathogenic (recessive) g.68912459A>G g.68446776A>G - - RPE65_000043 - PubMed: Kabir 2013 - - Germline yes 9/440 chromosomes BslI+;LpnPI- 0 - Muhammad Ajmal
+?/+? 3 c.179T>C r.(?) p.(Leu60Pro) - likely pathogenic (recessive) g.68912459A>G g.68446776A>G - - RPE65_000043 - PubMed: Kabir 2013 - - Germline yes 9/440 chromosomes BslI+;LpnPI- 0 - Muhammad Ajmal
+?/+? 3 c.179T>C r.(?) p.(Leu60Pro) - likely pathogenic (recessive) g.68912459A>G g.68446776A>G - - RPE65_000043 - PubMed: Kabir 2013 - - Germline yes 9/440 chromosomes BslI+;LpnPI- 0 - Muhammad Ajmal
+?/+? 3 c.179T>C r.(?) p.(Leu60Pro) - likely pathogenic (recessive) g.68912459A>G g.68446776A>G - - RPE65_000043 - PubMed: Henderson 2007 - - Germline yes - BslI+;LpnPI- 0 - Muhammad Ajmal
+/. 3 c.179T>C r.(?) p.(Leu60Pro) - pathogenic (recessive) g.68912459A>G g.68446776A>G - - RPE65_000043 - PubMed: Li 2017 - - Germline yes - - 0 - James Hejtmancik
?/. - c.179T>C r.(?) p.(Leu60Pro) - VUS g.68912459A>G g.68446776A>G RPE65 nucleotide 1, protein 1:c.179T>C, p.Leu60Pro nucleotide 2, protein 2:c.499G>T, p.Asp167Tyr - RPE65_000043 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline yes - - 0 - LOVD
+/. - c.179T>C r.(?) p.(Leu60Pro) - pathogenic g.68912459A>G g.68446776A>G RPE65 c.179T>C, p.Leu60Pro - RPE65_000043 homozygous PubMed: Scholl 2015 - - Unknown ? - - 0 - LOVD
+/. - c.179T>C r.(?) p.(Leu60Pro) - pathogenic g.68912459A>G g.68446776A>G RPE65 c.179T>C, p.Leu60Pro - RPE65_000043 homozygous PubMed: Scholl 2015 - - Unknown ? - - 0 - LOVD
+/. - c.179T>C r.(?) p.(Leu60Pro) - pathogenic g.68912459A>G g.68446776A>G RPE65 c.179T>C, p.Leu60Pro - RPE65_000043 homozygous PubMed: Scholl 2015 - - Unknown ? - - 0 - LOVD
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