PKD1 c.7579_7580del ;(p.V2527Lfs*67)

Variant ID: 16-2156214-GAC-G

NM_001009944.2(PKD1):c.7579_7580del;(p.V2527Lfs*67)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Journal Of Clinical Medicine
Kataoka, Hiroshi H; Fukuoka, Hinata H; Makabe, Shiho S; Yoshida, Rie R; Teraoka, Atsuko A; Ushio, Yusuke Y; Akihisa, Taro T; Manabe, Shun S; Sato, Masayo M; Mitobe, Michihiro M; Tsuchiya, Ken K; Nitta, Kosaku K; Mochizuki, Toshio T
Publication Date: 2020-01-05

Variant appearance in text: PKD1: 7579_7580delGT
PubMed Link: 31948117
Variant Present in the following documents:
  • jcm-09-00146-s001.pdf
View BVdb publication page



Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Bmc Medical Genetics
Choi, Rihwa R; Park, Hayne Cho HC; Lee, Kyunghoon K; Lee, Myoung-Gun MG; Kim, Jong-Won JW; Ki, Chang-Seok CS; Hwang, Young-Hwan YH; Ahn, Curie C
Publication Date: 2014-12-10

Variant appearance in text: PKD1: 7579_7580delGT; Val2527Leufs*67
PubMed Link: 25491204
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_129.pdf
View BVdb publication page