Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Val170Met (p.V170M)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Val170Met (p.V170M) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Dyskeratosis congenita, autosomal dominant 2
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.508G>A (p.Val170Met) AND Dyskeratosis congenita, autosomal dominant 2
- ClinVar Allele ID
- 45605
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.587G>A
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.587G>A
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.508G>A
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.508G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-06-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003473153
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 2
- Observed Origin Sample
- unknown
Drugs