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
- Hypercholesterolemia, autosomal dominant, type B familial hypobetalipoproteinemia 1
- Source Database
- ClinVar
- Description
- NM_000384.3(APOB):c.1853C>T (p.Ala618Val) AND multiple conditions
- ClinVar Allele ID
- 133869
- ClinVar RefSeq Alternation Syntax
- NM_000384.3:c.1853C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001837455
- ClinVar Disease
- Familial hypobetalipoproteinemia 1
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, type B
- Observed Origin Sample
- germline
Drugs