Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Ala716Val (p.A716V)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Ala716Val (p.A716V) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2147C>T (p.Ala716Val) AND not provided
- ClinVar Allele ID
- 47715
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.2226C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2147C>T
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2147C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-03-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001576802
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs