Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 p.Trp855Ter (p.W855*) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Trp855Ter (p.W855*) ( ENST00000370225.4, ENST00000649773.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter) AND not provided
ClinVar Allele ID
22922
ClinVar RefSeq Alternation Syntax
NM_001425324.1:c.2343G>A
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.2565G>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000085489
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs