Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Pro721Arg (p.P721R)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Pro721Arg (p.P721R) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Dyskeratosis congenita, autosomal dominant 1
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) AND Dyskeratosis congenita, autosomal dominant 1
- ClinVar Allele ID
- 47716
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.2241C>G
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2162C>G
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2162C>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032377
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 1
- Observed Origin Sample
- unknown
Drugs