Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 p.Arg2106Cys (p.R2106C) ( ENST00000370225.4 )
ABCA4 p.Arg2106Cys (p.R2106C) ( ENST00000370225.4 )
Associated Disease
Stargardt disease
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) AND Stargardt disease
ClinVar Allele ID
105336
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.6316C>T
ClinVar RefSeq Alternation Syntax
NM_001425324.1:c.6094C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2017-03-09
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004017397
ClinVar Disease
Stargardt disease
Observed Origin Sample
germline
Drugs