PKD1 c.1721A>G ;(p.E574G)

Variant ID: 16-2166531-T-C

NM_001009944.2(PKD1):c.1721A>G;(p.E574G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Plos One
Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K
Publication Date: 2016

Variant appearance in text: PKD1: 1721A>G; E574G
PubMed Link: 27835667
Variant Present in the following documents:
  • Main text
  • pone.0166288.pdf
  • pone.0166288.s008.xls, sheet 1
View BVdb publication page