Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Tyr54Cys (p.Y54C)
(
ENST00000272286.4 )
ABCG8 p.Tyr54Cys (p.Y54C) ( ENST00000272286.4 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) AND not specified
- ClinVar Allele ID
- 272795
- ClinVar RefSeq Alternation Syntax
- NM_022437.3:c.161A>G
- ClinVar RefSeq Alternation Syntax
- NM_001357321.2:c.161A>G
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2023-04-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000324327
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs