Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 p.Ala1028Val (p.A1028V) ( ENST00000370225.4 )
ABCA4 p.Ala1028Val (p.A1028V) ( ENST00000370225.4 )
Associated Disease
Severe early-childhood-onset retinal dystrophy
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) AND Severe early-childhood-onset retinal dystrophy
ClinVar Allele ID
22920
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.3083C>T
ClinVar RefSeq Alternation Syntax
NM_001425324.1:c.2861C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2016-12-29
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000008331
ClinVar Disease
Severe early-childhood-onset retinal dystrophy
Observed Origin Sample
germline
Pubmed
10880298
Drugs