MSH6 c.3438+6T>C

Variant ID: 2-48030830-T-C

NM_000179.2(MSH6):c.3438+6T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences
Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO
Publication Date: 2021-08-11

Variant appearance in text: MSH6: 3438+6T>C
PubMed Link: 34445333
Variant Present in the following documents:
  • Main text
  • ijms-22-08627.pdf
View BVdb publication page



Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics
Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H
Publication Date: 2017-05

Variant appearance in text: MSH6: 3438+6T>C
PubMed Link: 28531214
Variant Present in the following documents:
  • Main text
  • pgen.1006765.pdf
View BVdb publication page