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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/+? 4 c.311G>A r.(?) p.(Gly104Asp) Unknown - likely pathogenic (recessive) g.68910501C>T g.68444818C>T - - RPE65_000027 - PubMed: Jacobson 2009 - - Germline - - BanI-;NlaIV- 0 - DNA PCR, SEQ - - LCA - PubMed: Jacobson 2009 - F no ? (unknown) white - 0 - - 1 Muhammad Ajmal
+?/. - c.311G>A r.(?) p.(Gly104Asp) Parent #1 - likely pathogenic g.68910501C>T g.68444818C>T - - RPE65_000027 - PubMed: Huang 2015 - - Germline yes - - 0 - DNA SEQ-NG - 284 gene panel retinal disease W115-1 PubMed: Huang 2015 - F - China - - 0 - - 1 LOVD
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