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MSH6 c.3742_3745del ;(p.H1248Tfs*4)
Variant ID: 2-48033434-AACTC-A
NM_000179.2(
MSH6
):c.3742_3745del;(p.H1248Tfs*4)
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:
Lynch syndrome-associated lung cancer: pitfalls of an immunotherapy-based treatment strategy in an unusual tumor type.
Exploration Of Targeted Anti-Tumor Therapy
Maccaroni, Elena E; Lenci, Edoardo E; Agostinelli, Veronica V; Cognigni, Valeria V; Giampieri, Riccardo R; Mazzanti, Paola P; Di Pietro Paolo, Marzia M; Bianchi, Francesca F; Brugiati, Cristiana C; Belvederesi, Laura L; Pagliaretta, Silvia S; Mandolesi, Alessandra A; Scarpelli, Marina M; Murrone, Alberto A; Morgese, Francesca F; Ballatore, Zelmira Z; Berardi, Rossana R
Publication Date: 2021
Variant appearance in text: MSH6: 3742_3745del; His1248Thrfs*4
PubMed Link:
36046437
Variant Present in the following documents:
Main text
etat-02-100244.pdf
View BVdb publication page
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Journal Of Medical Genetics
Shickh, Salma S; Gutierrez Salazar, Mariana M; Zakoor, Kathleen-Rose KR; Lázaro, Conxi C; Gu, Jessica J; Goltz, Jamie J; Kleinman, Dakota D; Noor, Abdul A; Khalouei, Sam S; Mighton, Chloe C; Reble, Emma E; Kodida, Rita R; Bombard, Yvonne Y; DiTroia, Stephanie S; Baxter, Samantha S; Watkins, Nicholas N; Care, Melanie M; Adler, Arnon A; Horsburgh, Sheri S; Morar, Oana O; Murphy, Jillian J; Nevay, Dayna-Lynn DL; Szybowska, Marta M; Aronson, Melyssa M; Panchal, Seema S; Godoy, Ruth R; Holter, Spring S; Randall Armel, Susan S; Semotiuk, Kara K; Elser, Christine C; Kim, Raymond H RH; Chitayat, David D; So, Joyce J; Faghfoury, Hanna H; Silver, Josh J; Morel, Chantal F CF; Lerner-Ellis, Jordan J
Publication Date: 2021-04
Variant appearance in text: MSH6: 3739_3742delACTC; His1248Thrfs
PubMed Link:
32581083
Variant Present in the following documents:
Main text
View BVdb publication page