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
- Dyskeratosis congenita, autosomal recessive 1
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2701C>T (p.Arg901Trp) AND Dyskeratosis congenita, autosomal recessive 1
- 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
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032388
- ClinVar Disease
- Dyskeratosis congenita, autosomal recessive 1
- Observed Origin Sample
- unknown
Drugs