Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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