Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Lys902Asn (p.K902N)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Lys902Asn (p.K902N) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Dyskeratosis congenita, autosomal dominant 2
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2706G>C (p.Lys902Asn) AND Dyskeratosis congenita, autosomal dominant 2
- ClinVar Allele ID
- 27774
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2706G>C
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2654+1923G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013572
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 2
- Observed Origin Sample
- germline
- Pubmed
- 16247010
Drugs