Annotation Detail

Information
Associated Genes
APOB
Associated Variants
APOB p.Ala618Val (p.A618V) ( ENST00000233242.5, ENST00000399256.4 )
APOB p.Ala618Val (p.A618V) ( ENST00000233242.5, ENST00000399256.4 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) AND not specified
ClinVar Allele ID
133869
ClinVar RefSeq Alternation Syntax
NM_000384.3:c.1853C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2016-10-18
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000116384
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs