PKD1 c.6706T>C ;(p.F2236L)

Variant ID: 16-2158462-A-G

NM_001009944.2(PKD1):c.6706T>C;(p.F2236L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.

Frontiers In Molecular Neuroscience
Wang, Jing-Yang JY; Wang, Jie J; Lu, Xin-Guo XG; Song, Wang W; Luo, Sheng S; Zou, Dong-Fang DF; Hua, Li-Dong LD; Peng, Qian Q; Tian, Yang Y; Gao, Liang-Di LD; Liao, Wei-Ping WP; He, Na N
Publication Date: 2022

Variant appearance in text: PKD1: 6706T>C; F2236L
PubMed Link: 35620448
Variant Present in the following documents:
  • Main text
  • fnmol-15-861159.pdf
View BVdb publication page



Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05

Variant appearance in text: PKD1: 6706T>C; Phe2236Leu
PubMed Link: 22383692
Variant Present in the following documents:
  • Main text
View BVdb publication page