Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Leu2427_Arg2428del (p.L2427_R2428del)
(
ENST00000713844.1,
ENST00000601453.3,
ENST00000452508.7,
ENST00000278616.10,
ENST00000675843.1,
ENST00000525729.5 )
ATM p.Leu2427_Arg2428del (p.L2427_R2428del) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5 ) - Associated Disease
- Ataxia-telangiectasia syndrome
- Source Database
- ClinVar
- Description
- NM_000051.4(ATM):c.7279_7284del (p.Leu2427_Arg2428del) AND Ataxia-telangiectasia syndrome
- ClinVar Allele ID
- 18059
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*38+6005_*38+6010del
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-20144_641-20139del
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.7279_7284del
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.7279_7284del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1995-06-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003156
- ClinVar Disease
- Ataxia-telangiectasia syndrome
- Observed Origin Sample
- germline
- Pubmed
- 7792600
Drugs