Annotation Detail
Information
- Associated Genes
- APOB
- Associated Variants
-
APOB p.Glu4181Lys (p.E4181K)
(
ENST00000233242.5 )
APOB p.Glu4181Lys (p.E4181K) ( ENST00000233242.5 ) - Associated Disease
- familial hypercholesterolemia
- Source Database
- ClinVar
- Description
- NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) AND Familial hypercholesterolemia
- ClinVar Allele ID
- 133866
- ClinVar RefSeq Alternation Syntax
- NM_000384.3:c.12541G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-07-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000771040
- ClinVar Disease
- Familial hypercholesterolemia
- Observed Origin Sample
- germline
Drugs