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     
?/? 1 c.2T>C r.(?) p.(Met1?) Unknown - VUS g.68915587A>G g.68449904A>G 56T->c, M1T - RPE65_000136 - PubMed: Thompson 2000 - - Germline yes - HpyCH4IV+ 0 - DNA PCR, SEQ, SSCA - - retinal degeneration - PubMed: Thompson 2000 - ? no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1 c.2T>C r.(?) p.(Met1?) Both (homozygous) - VUS g.68915587A>G g.68449904A>G - - RPE65_000136 - PubMed: Morimura 1998 - - Germline yes - HpyCH4IV+ 0 - DNA PCR, SEQ, SSCA - - LCA - PubMed: Morimura 1998 - M no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
?/? 1 c.2T>C r.(?) p.(Met1?) Both (homozygous) - VUS g.68915587A>G g.68449904A>G - - RPE65_000136 - PubMed: Morimura 1998 - - Germline yes - HpyCH4IV+ 0 - DNA PCR, SEQ, SSCA - - LCA - PubMed: Morimura 1998 - M no ? (unknown) ? - 0 - - 1 Muhammad Ajmal
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