MSH6 c.459_460insCG ;(p.S154Rfs*21)

Variant ID: 2-48023034-T-TCG

NM_000179.2(MSH6):c.459_460insCG;(p.S154Rfs*21)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Buchanan, Daniel D DD; Tan, Yen Y YY; Walsh, Michael D MD; Clendenning, Mark M; Metcalf, Alexander M AM; Ferguson, Kaltin K; Arnold, Sven T ST; Thompson, Bryony A BA; Lose, Felicity A FA; Parsons, Michael T MT; Walters, Rhiannon J RJ; Pearson, Sally-Ann SA; Cummings, Margaret M; Oehler, Martin K MK; Blomfield, Penelope B PB; Quinn, Michael A MA; Kirk, Judy A JA; Stewart, Colin J CJ; Obermair, Andreas A; Young, Joanne P JP; Webb, Penelope M PM; Spurdle, Amanda B AB
Publication Date: 2014-01-10

Variant appearance in text: MSH6: Ser154Argfs
PubMed Link: 24323032
Variant Present in the following documents:
  • Main text
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