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MSH2 c.942+3A>G
Variant ID: 2-47641560-A-G
NM_000251.2(
MSH2
):c.942+3A>G
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Jama Network Open
Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E
Publication Date: 2019-10-02
Variant appearance in text: MSH2: 942+3A>G
PubMed Link:
31642931
Variant Present in the following documents:
jamanetwopen-2-e1913900-s001.pdf
View BVdb publication page
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
American Journal Of Human Genetics
, ; ,
Publication Date: 2019-09-05
Variant appearance in text: rs193922376
PubMed Link:
31447099
Variant Present in the following documents:
Main text
View BVdb publication page
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
Cancer Medicine
Schneider, Nayê Balzan NB; Pastor, Tatiane T; Paula, André Escremim de AE; Achatz, Maria Isabel MI; Santos, Ândrea Ribeiro Dos ÂRD; Vianna, Fernanda Sales Luiz FSL; Rosset, Clévia C; Pinheiro, Manuela M; Ashton-Prolla, Patricia P; Moreira, Miguel Ângelo Martins MÂM; Palmero, Edenir Inêz EI; ,
Publication Date: 2018-05
Variant appearance in text: rs193922376
PubMed Link:
29575718
Variant Present in the following documents:
Main text
CAM4-7-2078.pdf
View BVdb publication page