Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 p.Leu1201Arg (p.L1201R) ( ENST00000370225.4 )
ABCA4 p.Leu1201Arg (p.L1201R) ( ENST00000370225.4 )
Associated Disease
Severe early-childhood-onset retinal dystrophy
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) AND Severe early-childhood-onset retinal dystrophy
ClinVar Allele ID
22942
ClinVar RefSeq Alternation Syntax
NM_001425324.1:c.3380T>G
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.3602T>G
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2019-05-28
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000408567
ClinVar Disease
Severe early-childhood-onset retinal dystrophy
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs