Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Ala716Thr (p.A716T)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Ala716Thr (p.A716T) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Dyskeratosis congenita, autosomal dominant 2
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2146G>A (p.Ala716Thr) AND Dyskeratosis congenita, autosomal dominant 2
- ClinVar Allele ID
- 45606
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.2225G>A
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2146G>A
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2146G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003447479
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 2
- Observed Origin Sample
- germline
Drugs