PKD1 c.9380G>C ;(p.G3127A)

Variant ID: 16-2152079-C-G

NM_001009944.2(PKD1):c.9380G>C;(p.G3127A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PKD1: G3127A
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
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: Gly3127Ala
PubMed Link: 25491204
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_129.pdf
View BVdb publication page