Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Glu506Ter (p.E506*)
(
ENST00000393241.8,
ENST00000407439.7,
ENST00000323929.8,
ENST00000323977.7 )
MRE11 p.Glu506Ter (p.E506*) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 ) - Associated Disease
- Ataxia-telangiectasia-like disorder 1
- Source Database
- ClinVar
- Description
- NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) AND Ataxia-telangiectasia-like disorder 1
- ClinVar Allele ID
- 150655
- ClinVar RefSeq Alternation Syntax
- NM_005590.4:c.1516G>T
- ClinVar RefSeq Alternation Syntax
- NM_005591.4:c.1516G>T
- ClinVar RefSeq Alternation Syntax
- NM_001330347.2:c.1516G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-10-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000988624
- ClinVar Disease
- Ataxia-telangiectasia-like disorder 1
- Observed Origin Sample
- unknown
Drugs