MSH2 NM_000251.2:c.1906G C

Preferred Label : MSH2 NM_000251.2:c.1906G C;

NCIt synonyms : Postmeiotic Segregation Increased 1 c.1906G C; HNPCC1 c.1906G C; NM_000251.2:c.1906G C; HNPCC c.1906G C; MSH2 c.1906G C; MutS Homolog 2 c.1906G C;

NCIt definition : A nucleotide substitution at position 1906 of the coding sequence of the MSH2 gene where guanine has been mutated to cytosine.;

NCIt note : Homozygosity of the MSH2 c.1906G C germline mutation is a founder mutation for the Ashkenazi Jewish population and is associated with childhood colon cancer, astrocytoma and signs of neurofibromatosis type 1. (Familial Cancer. 2009; 8: 187-194.);

NCI Metathesaurus CUI : CL514309;

SNP ID : rs63750875;

Details

Origin ID

C131461;

UMLS CUI

C4330605;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- MSH2 NP_000242.1:p.A636P [NCIt concept]
- MSH2 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- DNA Repair Gene [NCIt concept]
- MSH2 Gene [NCIt concept]

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