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PCSK9 c.514C>G ;(p.Q172E)
Variant ID: 1-55512310-C-G
NM_174936.3(
PCSK9
):c.514C>G;(p.Q172E)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.
Frontiers In Genetics
Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M
Publication Date: 2021
Variant appearance in text: PCSK9: 514C>G
PubMed Link:
33732287
Variant Present in the following documents:
Main text
fgene-12-625959.pdf
View BVdb publication page