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MSH2 mutS homolog 2

Gene ID: 4436, updated on 9-Feb-2020
Also known as: FCC1; COCA1; HNPCC; LCFS2; hMSH2; HNPCC1

Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-07-09)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-07-09)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
2p21-p16.3
Sequence:
Chromosome: 2; NC_000002.12 (47403067..47634501)
Total number of exons:
22

Links

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