Annotation Detail
Information
- Associated Genes
- APOB
- Associated Variants
-
APOB p.Thr2515= (p.T2515=)
(
ENST00000233242.5 )
APOB p.Thr2515= (p.T2515=) ( ENST00000233242.5 ) - Associated Disease
- Hypercholesterolemia, autosomal dominant, type B familial hypobetalipoproteinemia 1
- Source Database
- ClinVar
- Description
- NM_000384.3(APOB):c.7545C>T (p.Thr2515=) AND multiple conditions
- ClinVar Allele ID
- 133874
- ClinVar RefSeq Alternation Syntax
- NM_000384.3:c.7545C>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/RCV001837460
- ClinVar Disease
- Familial hypobetalipoproteinemia 1
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, type B
- Observed Origin Sample
- germline
Drugs