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MSH2 c.160_161delinsTG ;(p.A54C)
Variant ID: 2-47630490-GC-TG
NM_000251.2(
MSH2
):c.160_161delinsTG;(p.A54C)
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:
Spontaneous mutations in the single TTN gene represent high tumor mutation burden.
Npj Genomic Medicine
Oh, Ji-Hye JH; Jang, Se Jin SJ; Kim, Jihun J; Sohn, Insuk I; Lee, Ji-Young JY; Cho, Eun Jeong EJ; Chun, Sung-Min SM; Sung, Chang Ohk CO
Publication Date: 2020
Variant appearance in text: MSH2: A54C
PubMed Link:
32821429
Variant Present in the following documents:
Main text
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: MSH2: A54C
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page