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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. - c.(879_887)? r.(?) p.(Lys294ins?) Parent #1 - pathogenic (recessive) g.(68904736_68904744)? g.(68439053_68439061)? Lys294ins? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/. - c.11+2T>V r.spl p.? Parent #1 - pathogenic (recessive) g.68915576A>B g.68449893A>B c.11+2T>? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Chung 2019 study natural history disease; individual possibly reported before - - - - - 0 - - 1 LOVD
+/+ 11i_12i c.(1243+1_1244-1)_(1338+1_1339-1)del r.(?) p.(Phe416Leufs*2) Paternal (confirmed) - pathogenic (recessive) g.(68896860_68896964)_(68897060_68897153)del - Ex 12 del - RPE65_000000 - PubMed: Philpa 2009 - - Germline yes - HinfI-;Hpy188III-;LpnPI (2)-;MluCI-;NdeI-;TfiI-;XcmI- 0 - DNA RT-PCR, HPLC, PAGE - - LCA - PubMed: Philpa 2009 2-generation family A,1 affected F no Spain Spanish - 0 - - 1 Muhammad Ajmal
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