PRKDC c.8150-640A>C

Variant ID: 8-48745127-T-G

NM_006904.7(PRKDC):c.8150-640A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Association of a Pathway-Specific Genetic Risk Score With Risk of Radiation-Associated Contralateral Breast Cancer.

Jama Network Open
Watt, Gordon P GP; Reiner, Anne S AS; Smith, Susan A SA; Stram, Daniel O DO; Capanu, Marinela M; Malone, Kathleen E KE; Lynch, Charles F CF; John, Esther M EM; Knight, Julia A JA; Mellemkjær, Lene L; Bernstein, Leslie L; Brooks, Jennifer D JD; Woods, Meghan M; Liang, Xiaolin X; Haile, Robert W RW; Riaz, Nadeem N; Conti, David V DV; Robson, Mark M; Duggan, David D; Boice, John D JD; Shore, Roy E RE; Tischkowitz, Marc M; Orlow, Irene I; Thomas, Duncan C DC; Concannon, Patrick P; Bernstein, Jonine L JL
Publication Date: 2019-09-04

Variant appearance in text: rs8178179
PubMed Link: 31560388
Variant Present in the following documents:
  • jamanetwopen-2-e1912259-s001.pdf
View BVdb publication page



Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma.

Plos One
Christie, Jason D JD; Wurfel, Mark M MM; Feng, Rui R; O'Keefe, Grant E GE; Bradfield, Jonathan J; Ware, Lorraine B LB; Christiani, David C DC; Calfee, Carolyn S CS; Cohen, Mitchell J MJ; Matthay, Michael M; Meyer, Nuala J NJ; Kim, Cecilia C; Li, Mingyao M; Akey, Joshua J; Barnes, Kathleen C KC; Sevransky, Jonathan J; Lanken, Paul N PN; May, Addison K AK; Aplenc, Richard R; Maloney, James P JP; Hakonarson, Hakon H; ,
Publication Date: 2012

Variant appearance in text: rs8178179
PubMed Link: 22295056
Variant Present in the following documents:
  • Main text
  • pone.0028268.pdf
View BVdb publication page



Identification of modifier genes for cutaneous malignant melanoma in melanoma-prone families with and without CDKN2A mutations.

International Journal Of Cancer
Yang, Xiaohong Rose XR; Pfeiffer, Ruth M RM; Wheeler, William W; Yeager, Meredith M; Chanock, Stephen S; Tucker, Margaret A MA; Goldstein, Alisa M AM
Publication Date: 2009-12-15

Variant appearance in text: rs8178179
PubMed Link: 19626699
Variant Present in the following documents:
  • Main text
View BVdb publication page