MLH1 c.1009_1010delinsCG ;(p.S337R)

Variant ID: 3-37061925-TC-CG

NM_000249.3(MLH1):c.1009_1010delinsCG;(p.S337R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: MLH1: Ser337Arg
PubMed Link: 32039725
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_652.pdf
View BVdb publication page