Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Asp1963Gly (p.D1963G)
(
ENST00000452508.7,
ENST00000278616.10,
ENST00000601453.3,
ENST00000675843.1,
ENST00000713844.1,
ENST00000525729.5 )
ATM p.Asp1963Gly (p.D1963G) ( ENST00000713844.1, ENST00000525729.5, ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1 ) - Associated Disease
- Ataxia-telangiectasia syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly) AND Ataxia-telangiectasia syndrome
- ClinVar Allele ID
- 475729
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-1214T>C
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*39-1214T>C
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.5888A>G
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.5888A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000685483
- ClinVar Disease
- Ataxia-telangiectasia syndrome
- Observed Origin Sample
- germline
Drugs