Annotation Detail
Information
- Associated Genes
- ATM LOC130006700
- Associated Variants
-
ATM c.-1149G>A
(
ENST00000601453.3,
ENST00000530958.5,
ENST00000532931.6,
ENST00000531525.3,
ENST00000683468.1,
ENST00000683914.2,
ENST00000675843.1,
ENST00000452508.7 )
ATM c.-1149G>A ( ENST00000452508.7, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000675843.1, ENST00000683468.1, ENST00000683914.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.-111G>A AND not provided
- ClinVar Allele ID
- 318028
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.-111G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.-199G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351835.2:c.-111G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000860560
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs