Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Ala2067Asp (p.A2067D)
(
ENST00000525729.5,
ENST00000452508.7,
ENST00000278616.10,
ENST00000675843.1,
ENST00000713844.1,
ENST00000601453.3 )
ATM p.Ala2067Asp (p.A2067D) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 ) - Associated Disease
- Ataxia - telangiectasia variant
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) AND Ataxia - telangiectasia variant
- ClinVar Allele ID
- 48348
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.6200C>A
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-8303G>T
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.6200C>A
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*39-8303G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-02-28
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032965
- ClinVar Disease
- Ataxia - telangiectasia variant
- Observed Origin Sample
- germline
- Pubmed
- 22345219
Drugs