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LDLR c.516C>A ;(p.D172E)
Variant ID: 19-11216098-C-A
NM_000527.4(
LDLR
):c.516C>A;(p.D172E)
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:
Identification of amino acid residues in the ligand binding repeats of LDL receptor important for PCSK9 binding.
Journal Of Lipid Research
Deng, Shi-Jun SJ; Alabi, Adekunle A; Gu, Hong-Mei HM; Adijiang, Ayinuer A; Qin, Shucun S; Zhang, Da-Wei DW
Publication Date: 2019-03
Variant appearance in text: LDLR: D172E
PubMed Link:
30617148
Variant Present in the following documents:
Main text
jlrM089193.pdf
View BVdb publication page
Mutation detection in Chinese patients with familial hypercholesterolemia.
Springerplus
Du, Ran R; Fan, Liang-Liang LL; Lin, Min-Jie MJ; He, Zhi-Jian ZJ; Huang, Hao H; Chen, Ya-Qin YQ; Li, Jing-Jing JJ; Xia, Kun K; Zhao, Shui-Ping SP; Xiang, Rong R
Publication Date: 2016
Variant appearance in text: LDLR: 516C>A; D172E
PubMed Link:
28028493
Variant Present in the following documents:
Main text
40064_2016_Article_3763.pdf
View BVdb publication page