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PKD1 c.11314del ;(p.A3772Pfs*54)
Variant ID: 16-2142144-GC-G
NM_001009944.2(
PKD1
):c.11314del;(p.A3772Pfs*54)
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:
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Molecular Genetics & Genomic Medicine
Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X
Publication Date: 2019-06
Variant appearance in text: PKD1: 11314delG; Ala3772Profs*54
PubMed Link:
31056860
Variant Present in the following documents:
Main text
MGG3-7-e720.pdf
View BVdb publication page
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: 11313delG
PubMed Link:
26632257
Variant Present in the following documents:
Main text
srep17468.pdf
View BVdb publication page