Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Met429Val (p.M429V)
(
ENST00000272286.4 )
ABCG8 p.Met429Val (p.M429V) ( ENST00000272286.4 ) - Associated Disease
- Sitosterolemia 1
- Source Database
- ClinVar
- Description
- NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) AND Sitosterolemia 1
- ClinVar Allele ID
- 491353
- ClinVar RefSeq Alternation Syntax
- NM_001357321.2:c.1282A>G
- ClinVar RefSeq Alternation Syntax
- NM_022437.3:c.1285A>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-09-24
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001137121
- ClinVar Disease
- Sitosterolemia 1
- Observed Origin Sample
- germline
Drugs