PKD1 c.12172del ;(p.V4058Wfs*140)

Variant ID: 16-2140558-AC-A

NM_001009944.2(PKD1):c.12172del;(p.V4058Wfs*140)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Corrigendum: Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

Scientific Reports
Liu, Bei B; Chen, Song-Chang SC; Yang, Yan-Mei YM; Yan, Kai K; Qian, Ye-Qing YQ; Zhang, Jun-Yu JY; Hu, Yu-Ting YT; Dong, Min-Yue MY; Jin, Fan F; Huang, He-Feng HF; Xu, Chen-Ming CM
Publication Date: 2016-02-23

Variant appearance in text: PKD1: 12172delG; Val4058TrpfsX140
PubMed Link: 26902268
Variant Present in the following documents:
  • srep21578.pdf
View BVdb publication page