Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM c.6807+238G>C
(
ENST00000525729.5,
ENST00000278616.10,
ENST00000452508.7,
ENST00000675843.1,
ENST00000601453.3,
ENST00000713844.1 )
ATM c.6807+238G>C ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.6807+238G>C AND not specified
- ClinVar Allele ID
- 621801
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-16711C>G
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.6807+238G>C
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.6807+238G>C
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*38+9438C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000779777
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs