Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM p.Leu1764TyrfsTer12 (p.L1764Yfs*12)
(
ENST00000675843.1,
ENST00000278616.10,
ENST00000452508.7,
ENST00000601453.3,
ENST00000713844.1 )
ATM p.Leu1764TyrfsTer12 (p.L1764Yfs*12) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- ATM-related disorder
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.5290del (p.Leu1764fs) AND ATM-related disorder
- ClinVar Allele ID
- 132862
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.5290del
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.5290del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004549557
- ClinVar Disease
- ATM-related disorder
- Observed Origin Sample
- germline
Drugs