MSH2 c.1387-914A>G

Variant ID: 2-47689256-A-G

NM_000251.2(MSH2):c.1387-914A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.

Familial Cancer
Rhees, Jennifer J; Arnold, Mildred M; Boland, C Richard CR
Publication Date: 2014-06

Variant appearance in text: rs6711675
PubMed Link: 24114314
Variant Present in the following documents:
  • Main text
View BVdb publication page



Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

Bmc Cancer
Zavodna, Katarina K; Krivulcik, Tomas T; Bujalkova, Maria Gerykova MG; Slamka, Tomas T; Martinicky, David D; Ilencikova, Denisa D; Bartosova, Zdena Z
Publication Date: 2009-11-20

Variant appearance in text: MSH2: 1387-914A>G; rs6711675
PubMed Link: 19930554
Variant Present in the following documents:
  • Main text
  • 1471-2407-9-405.pdf
View BVdb publication page