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MSH6 c.3848_3851del ;(p.I1283Sfs*43)
Variant ID: 2-48033637-ATTAC-A
NM_000179.2(
MSH6
):c.3848_3851del;(p.I1283Sfs*43)
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:
A Durable Response to Pembrolizumab in a Patient with Uterine Serous Carcinoma and Lynch Syndrome due to the MSH6 Germline Mutation.
The Oncologist
T Danley, Kelsey K; Schmitz, Karen K; Ghai, Ritu R; Sclamberg, Joy S JS; Buckingham, Lela E LE; Burgess, Kelly K; Kuzel, Timothy M TM; Usha, Lydia L
Publication Date: 2021-10
Variant appearance in text: MSH6: 3848_3851del; I1283fs
PubMed Link:
34018286
Variant Present in the following documents:
Main text
View BVdb publication page