Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Gly677Cys (p.G677C)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Gly677Cys (p.G677C) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Dyskeratosis congenita, autosomal dominant 1
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) AND Dyskeratosis congenita, autosomal dominant 1
- ClinVar Allele ID
- 47711
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.2108G>T
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.2108G>T
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2029G>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2029G>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032371
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 1
- Observed Origin Sample
- unknown
Drugs