PKD1 c.11455T>A ;(p.Y3819N)

Variant ID: 16-2141864-A-T

NM_001009944.2(PKD1):c.11455T>A;(p.Y3819N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 2015-12-03

Variant appearance in text: PKD1: Tyr3819Asn
PubMed Link: 26632257
Variant Present in the following documents:
  • Main text
  • srep17468.pdf
View BVdb publication page