Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.His1082LeufsTer14 (p.H1082Lfs*14)
(
ENST00000452508.7,
ENST00000278616.10,
ENST00000675843.1,
ENST00000713844.1,
ENST00000531525.3,
ENST00000601453.3 )
ATM p.His1082LeufsTer14 (p.H1082Lfs*14) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- Ataxia-telangiectasia syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND Ataxia-telangiectasia syndrome
- ClinVar Allele ID
- 18072
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.3245_3247delinsTGAT
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.3245_3247delinsTGAT
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003172
- ClinVar Disease
- Ataxia-telangiectasia syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10980530
- Pubmed
- 9781027
Drugs