PMS1 c.582+8045G>C

Variant ID: 2-190690951-G-C

NM_000534.4(PMS1):c.582+8045G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines.

Bmc Genomics
Theusch, Elizabeth E; Chen, Yii-Der I YI; Rotter, Jerome I JI; Krauss, Ronald M RM; Medina, Marisa W MW
Publication Date: 2020-08-12

Variant appearance in text: rs1233291
PubMed Link: 32787775
Variant Present in the following documents:
  • Main text
  • 12864_2020_Article_6966.pdf
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs1233291
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

Plos One
Schildkraut, Joellen M JM; Iversen, Edwin S ES; Wilson, Melanie A MA; Clyde, Merlise A MA; Moorman, Patricia G PG; Palmieri, Rachel T RT; Whitaker, Regina R; Bentley, Rex C RC; Marks, Jeffrey R JR; Berchuck, Andrew A
Publication Date: 2010-04-08

Variant appearance in text: rs1233291
PubMed Link: 20386703
Variant Present in the following documents:
  • Main text
  • pone.0010061.pdf
View BVdb publication page