Annotation Detail
Information
- Associated Genes
- GSTZ1
- Associated Variants
-
GSTZ1 p.Met83Thr (p.M83T)
(
ENST00000557053.5,
ENST00000349555.7,
ENST00000393734.5,
ENST00000361389.8,
ENST00000216465.10,
ENST00000556627.5,
ENST00000553586.5,
ENST00000554279.5,
ENST00000557639.5 )
GSTZ1 p.Met83Thr (p.M83T) ( ENST00000216465.10, ENST00000349555.7, ENST00000361389.8, ENST00000393734.5, ENST00000553586.5, ENST00000554279.5, ENST00000556627.5, ENST00000557053.5, ENST00000557639.5 ) - Associated Disease
- GSTZ1-related disorder
- Source Database
- ClinVar
- Description
- NM_145870.3(GSTZ1):c.245T>C (p.Met82Thr) AND GSTZ1-related disorder
- ClinVar Allele ID
- 2830902
- ClinVar RefSeq Alternation Syntax
- NM_001363703.2:c.248T>C
- ClinVar RefSeq Alternation Syntax
- NM_145871.3:c.216+388T>C
- ClinVar RefSeq Alternation Syntax
- NM_145870.3:c.245T>C
- ClinVar RefSeq Alternation Syntax
- NM_001312660.2:c.80T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-03-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003980954
- ClinVar Disease
- GSTZ1-related disorder
- Observed Origin Sample
- germline
Drugs