Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 p.Asn1868Ile (p.N1868I) ( ENST00000370225.4 )
ABCA4 p.Asn1868Ile (p.N1868I) ( ENST00000370225.4 )
Associated Disease
ABCA4-related disorder
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND ABCA4-related disorder
ClinVar Allele ID
105279
ClinVar RefSeq Alternation Syntax
NM_001425324.1:c.5381A>T
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.5603A>T
Clinical Significance Description
Conflicting interpretations of pathogenicity
Clinical Significance Last Update
2024-03-05
Clinical Significance Review Status
criteria provided, conflicting interpretations
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001097975
ClinVar Disease
ABCA4-related disorder
Observed Origin Sample
germline
Drugs