Annotation Detail
Information
- Associated Genes
- ATM C11orf65
- Associated Variants
-
ATM p.Arg2443Ter (p.R2443*)
(
ENST00000452508.7,
ENST00000713844.1,
ENST00000601453.3,
ENST00000278616.10,
ENST00000675843.1,
ENST00000525729.5 )
ATM p.Arg2443Ter (p.R2443*) ( 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.7327C>T (p.Arg2443Ter) AND Ataxia-telangiectasia syndrome
- ClinVar Allele ID
- 18075
- ClinVar RefSeq Alternation Syntax
- NM_001351110.2:c.*38+4987G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330368.2:c.641-21162G>A
- ClinVar RefSeq Alternation Syntax
- NM_000051.4:c.7327C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351834.2:c.7327C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003175
- ClinVar Disease
- Ataxia-telangiectasia syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 9887333
- Pubmed
- 9443866
- Pubmed
- 3338800
Drugs