PKD1 c.11248C>G ;(p.R3750G)

Variant ID: 16-2142502-G-C

NM_001009944.2(PKD1):c.11248C>G;(p.R3750G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

Bmc Medical Genetics
He, Wen-Bin WB; Xiao, Wen-Juan WJ; Tan, Yue-Qiu YQ; Zhao, Xiao-Meng XM; Li, Wen W; Zhang, Qian-Jun QJ; Zhong, Chang-Gao CG; Li, Xiu-Rong XR; Hu, Liang L; Lu, Guang-Xiu GX; Lin, Ge G; Du, Juan J
Publication Date: 2018-10-17

Variant appearance in text: PKD1: 11248C>G; Arg3750Gly
PubMed Link: 30333007
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_693.pdf
View BVdb publication page



Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Choi, Rihwa R; Park, Hayne Cho HC; Lee, Kyunghoon K; Lee, Myoung-Gun MG; Kim, Jong-Won JW; Ki, Chang-Seok CS; Hwang, Young-Hwan YH; Ahn, Curie C
Publication Date: 2014-12-10

Variant appearance in text: PKD1: Arg3750Gly
PubMed Link: 25491204
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_129.pdf
View BVdb publication page



Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Obeidova, Lena L; Elisakova, Veronika V; Stekrova, Jitka J; Reiterova, Jana J; Merta, Miroslav M; Tesar, Vladimir V; Losan, Frantisek F; Kohoutova, Milada M
Publication Date: 2014-04-03

Variant appearance in text: PKD1: 11248C>G; Arg3750Gly
PubMed Link: 24694054
Variant Present in the following documents:
  • Main text
  • 1471-2350-15-41.pdf
View BVdb publication page