Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Arg979Trp (p.R979W)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Arg979Trp (p.R979W) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- aplastic anemia
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) AND Aplastic anemia
- ClinVar Allele ID
- 47724
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.2643C>T
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.2607C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2746C>T
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2935C>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144245
- ClinVar Disease
- Aplastic anemia
- Observed Origin Sample
- somatic
Drugs