Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Val144Met (p.V144M)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Val144Met (p.V144M) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.430G>A (p.Val144Met) AND not provided
- ClinVar Allele ID
- 47730
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.430G>A
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.509G>A
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.509G>A
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.430G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-06-02
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000256024
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs