Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Glu506Lys (p.E506K)
(
ENST00000323977.7,
ENST00000323929.8,
ENST00000393241.8,
ENST00000407439.7 )
MRE11 p.Glu506Lys (p.E506K) ( 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>A (p.Glu506Lys) AND Ataxia-telangiectasia-like disorder 1
- ClinVar Allele ID
- 183514
- ClinVar RefSeq Alternation Syntax
- NM_001330347.2:c.1516G>A
- ClinVar RefSeq Alternation Syntax
- NM_005590.4:c.1516G>A
- ClinVar RefSeq Alternation Syntax
- NM_005591.4:c.1516G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-09-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003468753
- ClinVar Disease
- Ataxia-telangiectasia-like disorder 1
- Observed Origin Sample
- unknown
Drugs