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PCSK9 c.958G>A ;(p.D320N)
Variant ID: 1-55521824-G-A
NM_174936.3(
PCSK9
):c.958G>A;(p.D320N)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.
Frontiers In Physiology
Chen, Peipei P; Chen, Xi X; Zhang, Shuyang S
Publication Date: 2019
Variant appearance in text: PCSK9: D320N
PubMed Link:
30949068
Variant Present in the following documents:
Main text
fphys-10-00280.pdf
View BVdb publication page
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09
Variant appearance in text: PCSK9: 958G>A
PubMed Link:
29974678
Variant Present in the following documents:
MGG3-6-739-s002.xlsx, sheet 3
MGG3-6-739-s002.xlsx, sheet 5
View BVdb publication page
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26
Variant appearance in text: PCSK9: D320N
PubMed Link:
26608663
Variant Present in the following documents:
Main text
srep17272.pdf
View BVdb publication page