Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Tyr772Cys (p.Y772C)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Tyr772Cys (p.Y772C) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- aplastic anemia
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys) AND Aplastic anemia
- ClinVar Allele ID
- 27771
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2315A>G
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2315A>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032382
- ClinVar Disease
- Aplastic anemia
- Observed Origin Sample
- unknown
Drugs