MSH6 c.594G>C ;(p.E198D)

Variant ID: 2-48023169-G-C

NM_000179.2(MSH6):c.594G>C;(p.E198D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

American Journal Of Human Genetics
Jia, Xiaoyan X; Burugula, Bala Bharathi BB; Chen, Victor V; Lemons, Rosemary M RM; Jayakody, Sajini S; Maksutova, Mariam M; Kitzman, Jacob O JO
Publication Date: 2021-01-07

Variant appearance in text: MSH6: Glu198Asp
PubMed Link: 33357406
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page