Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Arg631Gln (p.R631Q)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Arg631Gln (p.R631Q) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Hereditary cancer-predisposing syndrome dyskeratosis congenita
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND multiple conditions
- ClinVar Allele ID
- 38854
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.1971G>A
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.1971G>A
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.1892G>A
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.1892G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002408477
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- ClinVar Disease
- Dyskeratosis congenita
- Observed Origin Sample
- germline
Drugs