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PKD1 c.1589G>A ;(p.C530Y)
Variant ID: 16-2166851-C-T
NM_001009944.2(
PKD1
):c.1589G>A;(p.C530Y)
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:
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: PKD1: C530Y
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.
Plos One
Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y
Publication Date: 2015
Variant appearance in text: PKD1: 1589G>A; C530Y
PubMed Link:
26274329
Variant Present in the following documents:
Main text
pone.0133636.pdf
View BVdb publication page