Annotation Detail
Information
- Associated Genes
- APOB
- Associated Variants
-
APOB p.Glu4181Ter (p.E4181*)
(
ENST00000233242.5 )
APOB p.Glu4181Ter (p.E4181*) ( ENST00000233242.5 ) - Associated Disease
- familial hypobetalipoproteinemia 1 Hypercholesterolemia, autosomal dominant, type B
- Source Database
- ClinVar
- Description
- NM_000384.3(APOB):c.12541G>T (p.Glu4181Ter) AND multiple conditions
- ClinVar Allele ID
- 907838
- ClinVar RefSeq Alternation Syntax
- NM_000384.3:c.12541G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-10-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002559957
- ClinVar Disease
- Familial hypobetalipoproteinemia 1
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, type B
- Observed Origin Sample
- germline
Drugs