MSH6 c.3173_3231del ;(p.D1058Gfs*15)

Variant ID: 2-48030559-GATGTTTTACTGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATGTGTCGCCCA-G

NM_000179.2(MSH6):c.3173_3231del;(p.D1058Gfs*15)

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:

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

Hereditary Cancer In Clinical Practice
Talseth-Palmer, Bente A BA; McPhillips, Mary M; Groombridge, Claire C; Spigelman, Allan A; Scott, Rodney J RJ
Publication Date: 2010-05-21

Variant appearance in text: MSH6: 3173_3556del
PubMed Link: 20487569
Variant Present in the following documents:
  • Main text
  • 1897-4287-8-5.pdf
View BVdb publication page