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MSH6 c.594G>C ;(p.E198D)
Variant ID: 2-48023169-G-C
NM_000179.2(
MSH6
):c.594G>C;(p.E198D)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
American Journal Of Human Genetics
Jia, Xiaoyan X; Burugula, Bala Bharathi BB; Chen, Victor V; Lemons, Rosemary M RM; Jayakody, Sajini S; Maksutova, Mariam M; Kitzman, Jacob O JO
Publication Date: 2021-01-07
Variant appearance in text: MSH6: Glu198Asp
PubMed Link:
33357406
Variant Present in the following documents:
Main text
mmc3.pdf
main.pdf
View BVdb publication page