PKD1 c.12013C>T ;(p.Q4005*)

Variant ID: 16-2140800-G-A

NM_001009944.2(PKD1):c.12013C>T;(p.Q4005*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Kidney International Reports
Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU
Publication Date: 2023-03

Variant appearance in text: PKD1: 12013C>T; Q4005*
PubMed Link: 36938073
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: PKD1: 12013C>T; Gln4005Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Yu, Chaowen C; Yang, Yuan Y; Zou, Lin L; Hu, Zhangxue Z; Li, Jing J; Liu, Yunqiang Y; Ma, Yongxin Y; Ma, Mingyi M; Su, Dan D; Zhang, Sizhong S
Publication Date: 2011-12-20

Variant appearance in text: PKD1: 12013C>T; Gln4005*
PubMed Link: 22185115
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-164.pdf
View BVdb publication page