Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Val2424Gly (p.V2424G)
(
ENST00000278616.10,
ENST00000675843.1,
ENST00000525729.5,
ENST00000452508.7,
ENST00000601453.3,
ENST00000713844.1 )
ATM p.Val2424Gly (p.V2424G) ( ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5, ENST00000278616.10 ) - Associated Disease
- Ataxia-telangiectasia syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND Ataxia-telangiectasia syndrome
- ClinVar Allele ID
- 18062
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*38+6018A>C
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-20131A>C
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.7271T>G
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.7271T>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000168223
- ClinVar Disease
- Ataxia-telangiectasia syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- paternal
- Observed Origin Sample
- unknown
Drugs