PKD1 c.7204C>T ;(p.R2402*)

Variant ID: 16-2156811-G-A

NM_001009944.2(PKD1):c.7204C>T;(p.R2402*)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Npj Genomic Medicine
Yu, Chih-Chuan CC; Lee, An-Fu AF; Kohl, Stefen S; Lin, Ming-Yen MY; Cheng, Siao Muk SM; Hung, Chi-Chih CC; Chang, Jer-Ming JM; Chiu, Yi-Wen YW; Hwang, Shang-Jyh SJ; Otto, Edgar A EA; Hildebrandt, Friedhelm F; , ; Hwang, Daw-Yang DY
Publication Date: 2022-07-01

Variant appearance in text: PKD1: 7204C>T; Arg2402*
PubMed Link: 35778421
Variant Present in the following documents:
  • Main text
  • 41525_2022_Article_309.pdf
View BVdb publication page


Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.

Kidney International Reports
Izzi, Claudia C; Dordoni, Chiara C; Delbarba, Elisa E; Mazza, Cinzia C; Savoldi, Gianfranco G; Econimo, Laura L; Cortinovis, Roberta R; Zeni, Letizia L; Martin, Eva E; Alberici, Federico F; Scolari, Francesco F
Publication Date: 2022-04

Variant appearance in text: PKD1: Arg2402*
PubMed Link: 35497784
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page


Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One
Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y
Publication Date: 2015

Variant appearance in text: PKD1: 7204C>T; R2402*
PubMed Link: 26274329
Variant Present in the following documents:
  • Main text
  • pone.0133636.pdf
View BVdb publication page


Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E
Publication Date: 2014-09

Variant appearance in text: PKD1: 7204C>T; Arg2402*
PubMed Link: 25333066
Variant Present in the following documents:
  • Main text
  • mgg30002-0412.pdf
View BVdb publication page