Annotation Detail
Information
- Associated Genes
- ABCG5 ABCG8
- Associated Variants
-
ABCG5 p.Arg50Cys (p.R50C)
(
ENST00000405322.8 )
ABCG5 p.Arg50Cys (p.R50C) ( ENST00000405322.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) AND not specified
- ClinVar Allele ID
- 271030
- ClinVar RefSeq Alternation Syntax
- NM_022436.3:c.148C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2023-07-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000365368
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs