Annotation Detail
Information
- Associated Genes
- GPX1
- Associated Variants
-
GPX1 p.Gln198Ter (p.Q198*), ENSG00000290318 c.*312C>T
(
ENST00000419349.3,
ENST00000419783.3,
ENST00000496791.3,
ENST00000643797.2,
ENST00000646881.3,
ENST00000703795.1,
ENST00000703796.1,
ENST00000704356.1,
ENST00000704374.1,
ENST00000704375.1,
ENST00000704376.1,
ENST00000704377.1,
ENST00000704378.1 )
GPX1 p.Gln198Ter (p.Q198*), ENSG00000290318 c.*312C>T ( ENST00000419349.3, ENST00000419783.3, ENST00000496791.3, ENST00000643797.2, ENST00000646881.3, ENST00000703795.1, ENST00000703796.1, ENST00000704356.1, ENST00000704374.1, ENST00000704375.1, ENST00000704376.1, ENST00000704377.1, ENST00000704378.1 ) - Associated Disease
- Gluthathione peroxidase deficiency
- Source Database
- ClinVar
- Description
- NM_000581.4(GPX1):c.592C>T (p.Gln198Ter) AND Gluthathione peroxidase deficiency
- ClinVar Allele ID
- 2412764
- ClinVar RefSeq Alternation Syntax
- NM_201397.3:c.*574C>T
- ClinVar RefSeq Alternation Syntax
- NM_001329502.2:c.*418C>T
- ClinVar RefSeq Alternation Syntax
- NM_001329455.2:c.454C>T
- ClinVar RefSeq Alternation Syntax
- NM_000581.4:c.592C>T
- ClinVar RefSeq Alternation Syntax
- NM_001329503.2:c.*98C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003135441
- ClinVar Disease
- Gluthathione peroxidase deficiency
- Observed Origin Sample
- germline
Drugs