Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Ala47Val (p.A47V)
(
ENST00000323929.8,
ENST00000323977.7,
ENST00000393241.8,
ENST00000407439.7,
ENST00000540013.5 )
MRE11 p.Ala47Val (p.A47V) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7, ENST00000540013.5 ) - Associated Disease
- Ataxia-telangiectasia-like disorder 1
- Source Database
- ClinVar
- Description
- NM_005591.4(MRE11):c.140C>T (p.Ala47Val) AND Ataxia-telangiectasia-like disorder 1
- ClinVar Allele ID
- 178875
- ClinVar RefSeq Alternation Syntax
- NM_001330347.2:c.140C>T
- ClinVar RefSeq Alternation Syntax
- NM_005591.4:c.140C>T
- ClinVar RefSeq Alternation Syntax
- NM_005590.4:c.140C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-02-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000157663
- ClinVar Disease
- Ataxia-telangiectasia-like disorder 1
- Observed Origin Sample
- germline
- Pubmed
- 24332946
Drugs