Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Arg2227Cys (p.R2227C)
(
ENST00000278616.10,
ENST00000525729.5,
ENST00000452508.7,
ENST00000601453.3,
ENST00000675843.1,
ENST00000713844.1 )
ATM p.Arg2227Cys (p.R2227C) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 ) - Associated Disease
- Familial cancer of breast Ataxia-telangiectasia syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) AND multiple conditions
- ClinVar Allele ID
- 180494
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-16345G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*38+9804G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.6679C>T
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.6679C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000762827
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Ataxia-telangiectasia syndrome
- Observed Origin Sample
- unknown
Drugs