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.

9 entries on 1 page. Showing entries 1 - 9.
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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     
-/- 4 c.295G>A r.(?) p.(Val99Ile) - benign g.68910517C>T g.68444834C>T - - RPE65_000079 unknown variant 2ndchromosome; not in 96 controls PubMed: Li 2011 - - Germline - 4/87 cases - 0 - Muhammad Ajmal
-/- 4 c.295G>A r.(?) p.(Val99Ile) - benign g.68910517C>T g.68444834C>T - - RPE65_000079 reported as digenic with GUCY2D variant; unknown variant 2ndchromosome; not in 96 controls PubMed: Li 2011 - - Germline - 4/87 cases - 0 - Muhammad Ajmal
?/. - c.295G>A r.(?) p.(Val99Ile) - VUS g.68910517C>T g.68444834C>T RPE65(NM_000329.2):c.295G>A (p.V99I) - RPE65_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.295G>A r.(?) p.(Val99Ile) - pathogenic (recessive) g.68910517C>T g.68444834C>T - - RPE65_000079 - PubMed: Li 2019 - - Germline - - - 0 - LOVD
?/. - c.295G>A r.(?) p.(Val99Ile) - VUS g.68910517C>T g.68444834C>T - - RPE65_000079 - PubMed: Xu 2014 - rs143056561 Germline - 1/314 case chromosomes - 0 - LOVD
+/. 4 c.295G>A r.(?) p.(Val99Ile) - pathogenic g.68910517C>T - 295G>A - RPE65_000079 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - 0 - LOVD
-/. 4 c.295G>A r.(?) p.(Val99Ile) - benign g.68910517C>T - 295G>A - RPE65_000079 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - 0 - LOVD
-/. 4 c.295G>A r.(?) p.(Val99Ile) - benign g.68910517C>T - 295G>A - RPE65_000079 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - 0 - LOVD
-/. 4 c.295G>A r.(?) p.(Val99Ile) - benign g.68910517C>T - 295G>A - RPE65_000079 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - 0 - LOVD
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