MSH2 c.403_404delinsTA ;(p.L135Y)

Variant ID: 2-47637269-CT-TA

NM_000251.2(MSH2):c.403_404delinsTA;(p.L135Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: L135Y
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

Plos Genetics
Nielsen, Sofie V SV; Stein, Amelie A; Dinitzen, Alexander B AB; Papaleo, Elena E; Tatham, Michael H MH; Poulsen, Esben G EG; Kassem, Maher M MM; Rasmussen, Lene J LJ; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2017-04

Variant appearance in text: MSH2: L135Y
PubMed Link: 28422960
Variant Present in the following documents:
  • Main text
  • pgen.1006739.pdf
View BVdb publication page