Annotation Detail
Information
- Associated Genes
- MRE11
- Associated Variants
-
MRE11 p.Thr481Lys (p.T481K)
(
ENST00000393241.8,
ENST00000407439.7,
ENST00000323977.7,
ENST00000323929.8 )
MRE11 p.Thr481Lys (p.T481K) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 ) - Associated Disease
- Ataxia-telangiectasia-like disorder 1
- Source Database
- ClinVar
- Description
- NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) AND Ataxia-telangiectasia-like disorder 1
- ClinVar Allele ID
- 23824
- ClinVar RefSeq Alternation Syntax
- NM_001330347.2:c.1442C>A
- ClinVar RefSeq Alternation Syntax
- NM_005590.4:c.1442C>A
- ClinVar RefSeq Alternation Syntax
- NM_005591.4:c.1442C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-09-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009330
- ClinVar Disease
- Ataxia-telangiectasia-like disorder 1
- Observed Origin Sample
- germline
- Pubmed
- 15269180
Drugs