Annotation Detail
Information
- Associated Genes
- GSTO1
- Associated Variants
-
GSTO1 p.Ala140Asp (p.A140D)
(
ENST00000369713.10,
ENST00000539281.5,
ENST00000369710.8 )
GSTO1 p.Ala140Asp (p.A140D) ( ENST00000369710.8, ENST00000369713.10, ENST00000539281.5 ) - Associated Disease
- GSTO1-related disorder
- Source Database
- ClinVar
- Description
- NM_004832.3(GSTO1):c.419C>A (p.Ala140Asp) AND GSTO1-related disorder
- ClinVar Allele ID
- 3193407
- ClinVar RefSeq Alternation Syntax
- NM_001191002.2:c.367-3053C>A
- ClinVar RefSeq Alternation Syntax
- NM_004832.3:c.419C>A
- ClinVar RefSeq Alternation Syntax
- NM_001191003.2:c.335C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974574
- ClinVar Disease
- GSTO1-related disorder
- Observed Origin Sample
- germline
Drugs