MLH1 c.324C>G ;(p.S108R)

Variant ID: 3-37045909-C-G

NM_000249.3(MLH1):c.324C>G;(p.S108R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

International Journal Of Cancer
Goel, Ajay A; Nguyen, Thuy-Phuong TP; Leung, Hon-Chiu E HC; Nagasaka, Takeshi T; Rhees, Jennifer J; Hotchkiss, Erin E; Arnold, Mildred M; Banerji, Pia P; Koi, Minoru M; Kwok, Chau-To CT; Packham, Deborah D; Lipton, Lara L; Boland, C Richard CR; Ward, Robyn L RL; Hitchins, Megan P MP
Publication Date: 2011-02-15

Variant appearance in text: MLH1: 324C>G; S108R
PubMed Link: 20473912
Variant Present in the following documents:
  • Main text
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