Annotation Detail
Information
- Associated Genes
- ATR
- Associated Variants
-
ATR p.Met211Thr (p.M211T)
(
ENST00000350721.9,
ENST00000661310.1 )
ATR p.Met211Thr (p.M211T) ( ENST00000350721.9, ENST00000661310.1 ) - Associated Disease
- Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
- Source Database
- ClinVar
- Description
- NM_001184.4(ATR):c.632T>C (p.Met211Thr) AND Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
- ClinVar Allele ID
- 99571
- ClinVar RefSeq Alternation Syntax
- NM_001354579.2:c.632T>C
- ClinVar RefSeq Alternation Syntax
- NM_001184.4:c.632T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-07-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003315603
- ClinVar Disease
- Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
- Observed Origin Sample
- germline
Drugs