Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Pro923Leu (p.P923L)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Pro923Leu (p.P923L) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) AND not provided
- ClinVar Allele ID
- 45608
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2768C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2654+1985C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-06-09
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001753435
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs