MLH1 c.1409+581T>C

Variant ID: 3-37068079-T-C

NM_000249.3(MLH1):c.1409+581T>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.

Aging
Akçimen, Fulya F; Martins, Sandra S; Liao, Calwing C; Bourassa, Cynthia V CV; Catoire, Hélène H; Nicholson, Garth A GA; Riess, Olaf O; Raposo, Mafalda M; França, Marcondes C MC; Vasconcelos, João J; Lima, Manuela M; Lopes-Cendes, Iscia I; Saraiva-Pereira, Maria Luiza ML; Jardim, Laura B LB; Sequeiros, Jorge J; Dion, Patrick A PA; Rouleau, Guy A GA
Publication Date: 2020-03-23

Variant appearance in text: rs144287831
PubMed Link: 32205469
Variant Present in the following documents:
  • Main text
  • aging-12-102825.pdf
View BVdb publication page



A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.

Ebiomedicine
Ciosi, Marc M; Maxwell, Alastair A; Cumming, Sarah A SA; Hensman Moss, Davina J DJ; Alshammari, Asma M AM; Flower, Michael D MD; Durr, Alexandra A; Leavitt, Blair R BR; Roos, Raymund A C RAC; , ; , ; Holmans, Peter P; Jones, Lesley L; Langbehn, Douglas R DR; Kwak, Seung S; Tabrizi, Sarah J SJ; Monckton, Darren G DG
Publication Date: 2019-10

Variant appearance in text: rs144287831
PubMed Link: 31607598
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



A modifier of Huntington's disease onset at the MLH1 locus.

Human Molecular Genetics
Lee, Jong-Min JM; Chao, Michael J MJ; Harold, Denise D; Abu Elneel, Kawther K; Gillis, Tammy T; Holmans, Peter P; Jones, Lesley L; Orth, Michael M; Myers, Richard H RH; Kwak, Seung S; Wheeler, Vanessa C VC; MacDonald, Marcy E ME; Gusella, James F JF
Publication Date: 2017-10-01

Variant appearance in text: rs144287831
PubMed Link: 28934397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease.

Cell
,
Publication Date: 2015-07-30

Variant appearance in text: rs144287831
PubMed Link: 26232222
Variant Present in the following documents:
  • Main text
View BVdb publication page