Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Asn117Ser (p.N117S)
(
ENST00000393241.8,
ENST00000407439.7,
ENST00000323977.7,
ENST00000323929.8,
ENST00000540013.5 )
MRE11 p.Asn117Ser (p.N117S) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 ) - Associated Disease
- Ataxia-telangiectasia-like disorder
- Source Database
- ClinVar
- Description
- NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) AND Ataxia-telangiectasia-like disorder
- ClinVar Allele ID
- 23822
- ClinVar RefSeq Alternation Syntax
- NM_001330347.2:c.350A>G
- ClinVar RefSeq Alternation Syntax
- NM_005591.4:c.350A>G
- ClinVar RefSeq Alternation Syntax
- NM_005590.4:c.350A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-04-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001034646
- ClinVar Disease
- Ataxia-telangiectasia-like disorder
- Observed Origin Sample
- germline
Drugs