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     
+/. 2 c.61del r.(?) p.(Glu21Asnfs*10) Maternal (confirmed) - pathogenic (recessive) g.68914341del g.68448658del - - RPE65_000192 - - - - Germline - - - 0 - DNA SEQ-NG-I blood - RD - - - F - Mexico - - 0 - - 1 Juan Carlos Zenteno
+/. - c.61del r.(?) p.(Glu21Asnfs*10) Parent #2 ACMG pathogenic g.68914341del g.68448658del 61delG - RPE65_000192 ACMG PVS1, PM2, PM3, PP2, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3751 PubMed: Zenteno 2020 single patient - - Mexico - - 0 - - 1 Johan den Dunnen
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