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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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