MLH1 c.954del ;(p.H318Qfs*49)

Variant ID: 3-37061870-AC-A

NM_000249.3(MLH1):c.954del;(p.H318Qfs*49)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 954delC; His318Glnfs; rs63749926
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.

Medical Oncology (Northwood, London, England)
Vietri, Maria Teresa MT; D'Elia, Giovanna G; Caliendo, Gemma G; Casamassimi, Amelia A; Federico, Alessandro A; Passariello, Luana L; Cioffi, Michele M; Molinari, Anna Maria AM
Publication Date: 2021-01-23

Variant appearance in text: MLH1: 954delC; His318Glnfs
PubMed Link: 33484353
Variant Present in the following documents:
  • Main text
  • 12032_2021_Article_1454.pdf
  • 12032_2021_1454_MOESM1_ESM.pdf
View BVdb publication page



Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One
De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A
Publication Date: 2013

Variant appearance in text: MLH1: 954delC; His318Glnfs*49
PubMed Link: 24278394
Variant Present in the following documents:
  • Main text
  • pone.0081194.pdf
View BVdb publication page