Annotation Detail

Information
Associated Genes
ABCA4
Associated Variants
ABCA4 p.Val849Ala (p.V849A) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Val849Ala (p.V849A) ( ENST00000370225.4, ENST00000649773.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) AND not provided
ClinVar Allele ID
105030
ClinVar RefSeq Alternation Syntax
NM_001425324.1:c.2324T>C
ClinVar RefSeq Alternation Syntax
NM_000350.3:c.2546T>C
Clinical Significance Description
Conflicting interpretations of pathogenicity
Clinical Significance Last Update
2024-01-29
Clinical Significance Review Status
criteria provided, conflicting interpretations
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000085485
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
not provided
Drugs