Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Val1268Ter (p.V1268*)
(
ENST00000531525.3,
ENST00000713844.1,
ENST00000601453.3,
ENST00000675843.1,
ENST00000278616.10,
ENST00000452508.7 )
ATM p.Val1268Ter (p.V1268*) ( ENST00000531525.3, ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- breast carcinoma
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) AND Breast carcinoma
- ClinVar Allele ID
- 132831
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.3802del
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.3802del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-08-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001572625
- ClinVar Disease
- Breast carcinoma
- Observed Origin Sample
- germline
Drugs