Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Thr481HisfsTer43 (p.T481Hfs*43)
(
ENST00000393241.8,
ENST00000407439.7,
ENST00000323929.8,
ENST00000323977.7 )
MRE11 p.Thr481HisfsTer43 (p.T481Hfs*43) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 ) - Associated Disease
- Ataxia-telangiectasia-like disorder
- Source Database
- ClinVar
- Description
- NM_005591.4(MRE11):c.1441del (p.Thr481fs) AND Ataxia-telangiectasia-like disorder
- ClinVar Allele ID
- 212957
- ClinVar RefSeq Alternation Syntax
- NM_001330347.2:c.1441del
- ClinVar RefSeq Alternation Syntax
- NM_005591.4:c.1441del
- ClinVar RefSeq Alternation Syntax
- NM_005590.4:c.1441del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-06-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001384423
- ClinVar Disease
- Ataxia-telangiectasia-like disorder
- Observed Origin Sample
- germline
Drugs