Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Arg901Trp (p.R901W)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Arg901Trp (p.R901W) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- autosomal recessive dyskeratosis congenita 4
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) AND Autosomal recessive dyskeratosis congenita 4
- ClinVar Allele ID
- 38856
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2701C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2654+1918C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-12-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022785
- ClinVar Disease
- Autosomal recessive dyskeratosis congenita 4
- Observed Origin Sample
- germline
- Pubmed
- 17785587
Drugs