MLH1 c.673_675delinsTGA ;(p.S225*)

Variant ID: 3-37053586-AGT-TGA

NM_000249.3(MLH1):c.673_675delinsTGA;(p.S225*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Determining the frequency of de novo germline mutations in DNA mismatch repair genes.

Journal Of Medical Genetics
Win, Aung Ko AK; Jenkins, Mark A MA; Buchanan, Daniel D DD; Clendenning, Mark M; Young, Joanne P JP; Giles, Graham G GG; Goldblatt, Jack J; Leggett, Barbara A BA; Hopper, John L JL; Thibodeau, Stephen N SN; Lindor, Noralane M NM
Publication Date: 2011-08

Variant appearance in text: MLH1: Ser225X
PubMed Link: 21636617
Variant Present in the following documents:
  • Main text
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