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.




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