Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Thr400Lys (p.T400K)
(
ENST00000272286.4 )
ABCG8 p.Thr400Lys (p.T400K) ( ENST00000272286.4 ) - Associated Disease
- Sitosterolemia 1
- Source Database
- ClinVar
- Description
- NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) AND Sitosterolemia 1
- ClinVar Allele ID
- 196062
- ClinVar RefSeq Alternation Syntax
- NM_022437.3:c.1199C>A
- ClinVar RefSeq Alternation Syntax
- NM_001357321.2:c.1196C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000289049
- ClinVar Disease
- Sitosterolemia 1
- Observed Origin Sample
- germline
Drugs