Annotation Detail

Information
Associated Genes
MRE11
Associated Variants
MRE11 p.Arg364= (p.R364=) ( ENST00000393241.8, ENST00000407439.7, ENST00000323977.7, ENST00000323929.8 )
MRE11 p.Arg364= (p.R364=) ( ENST00000323929.8, ENST00000323977.7, ENST00000393241.8, ENST00000407439.7 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_005591.4(MRE11):c.1090C>A (p.Arg364=) AND not provided
ClinVar Allele ID
183541
ClinVar RefSeq Alternation Syntax
NM_005590.4:c.1090C>A
ClinVar RefSeq Alternation Syntax
NM_005591.4:c.1090C>A
ClinVar RefSeq Alternation Syntax
NM_001330347.2:c.1090C>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2019-05-17
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001762386
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs