Annotation Detail

Information
Associated Genes
MSH2
Associated Variants
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
MSH2 p.? (p.?) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713860.1, ENST00000713861.1, ENST00000713919.1 )
Source Database
ClinVar
Description
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) AND Malignant tumor of breast
ClinVar Allele ID
96307
ClinVar RefSeq Alternation Syntax
NM_000251.3:c.1A>C
ClinVar RefSeq Alternation Syntax
NM_001258281.1:c.-31+17A>C
Clinical Significance Description
Uncertain significance
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001358333
Observed Origin Sample
unknown
Drugs