Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Arg2032Lys (p.R2032K)
(
ENST00000713844.1,
ENST00000601453.3,
ENST00000675843.1,
ENST00000452508.7,
ENST00000278616.10,
ENST00000525729.5 )
ATM p.Arg2032Lys (p.R2032K) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 ) - Associated Disease
- breast carcinoma
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND Breast carcinoma
- ClinVar Allele ID
- 180483
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-6840C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*39-6840C>T
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.6095G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.6095G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001657897
- ClinVar Disease
- Breast carcinoma
- Observed Origin Sample
- germline
Drugs