Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.His412Tyr (p.H412Y)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND not specified
- ClinVar Allele ID
- 27769
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.1313C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.1234C>T
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.1313C>T
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.1234C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2018-11-06
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000218461
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs