Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Arg633= (p.R633=)
(
ENST00000323929.8,
ENST00000323977.7,
ENST00000393241.8,
ENST00000407439.7 )
MRE11 p.Arg633= (p.R633=) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 ) - Associated Disease
- Ataxia-telangiectasia-like disorder
- Source Database
- ClinVar
- Description
- NM_005591.4(MRE11):c.1897C>A (p.Arg633=) AND Ataxia-telangiectasia-like disorder
- ClinVar Allele ID
- 2730845
- ClinVar RefSeq Alternation Syntax
- NM_005590.4:c.1813C>A
- ClinVar RefSeq Alternation Syntax
- NM_005591.4:c.1897C>A
- ClinVar RefSeq Alternation Syntax
- NM_001330347.2:c.1894C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-06-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003592017
- ClinVar Disease
- Ataxia-telangiectasia-like disorder
- Observed Origin Sample
- germline
Drugs