Annotation Detail
Information
- Associated Genes
- ABCG5 ABCG8
- Associated Variants
-
ABCG8 p.Asp19His (p.D19H)
(
ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 ) - Associated Disease
- Sitosterolemia 1
- Source Database
- ClinVar
- Description
- NM_022437.3(ABCG8):c.55G>C (p.Asp19His) AND Sitosterolemia 1
- ClinVar Allele ID
- 20014
- ClinVar RefSeq Alternation Syntax
- NM_022437.3:c.55G>C
- ClinVar RefSeq Alternation Syntax
- NM_001357321.2:c.55G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001094725
- ClinVar Disease
- Sitosterolemia 1
- Observed Origin Sample
- germline
Drugs