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PKD1 c.3865G>A ;(p.V1289M)
Variant ID: 16-2161303-C-T
NM_001009944.2(
PKD1
):c.3865G>A;(p.V1289M)
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:
Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.
Molecular Genetics & Genomic Medicine
Dong, Kexian K; Liu, Xiaogang X; Jia, Xueyuan X; Miao, Huanhuan H; Ji, Wei W; Wu, Jie J; Huang, Yun Y; Xu, Lidan L; Zhang, Xuelong X; Su, Hui H; Ji, Guohua G; Liu, Peng P; Guan, Rongwei R; Bai, Jing J; Fu, Songbin S; Zhou, Xianli X; Sun, Wenjing W
Publication Date: 2020-11
Variant appearance in text: PKD1: 3865G>A; V1289M
PubMed Link:
32970388
Variant Present in the following documents:
Main text
MGG3-8-e1467.pdf
View BVdb publication page
System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.
Scientific Reports
Jin, Meiling M; Xie, Yuansheng Y; Chen, Zhiqiang Z; Liao, Yujie Y; Li, Zuoxiang Z; Hu, Panpan P; Qi, Yan Y; Yin, Zhiwei Z; Li, Qinggang Q; Fu, Ping P; Chen, Xiangmei X
Publication Date: 2016-10-26
Variant appearance in text: PKD1: 3865G>A; V1289M
PubMed Link:
27782177
Variant Present in the following documents:
srep35945-s1.pdf
View BVdb publication page