Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Glu2366Ter (p.E2366*)
(
ENST00000713844.1,
ENST00000601453.3,
ENST00000452508.7,
ENST00000278616.10,
ENST00000675843.1,
ENST00000525729.5 )
ATM p.Glu2366Ter (p.E2366*) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 151058
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*38+6193C>A
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.7096G>T
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.7096G>T
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-19956C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-12-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000129830
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs