Variant ID: 1-55524197-A-C

NM_174936.3(PCSK9):c.1380A>C;(p.Val460Val)

This variant was identified in 6 publications




Publications:


Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports
T Guo, RX Yin, LM Yao, F Huang, L Pan, WX Lin, DZ Yang, SL Pan
Publication Date: 2016-11-17

Variant appearance in text: rs540796
PMID: 27853278
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Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: N/A
PMID: 25412415
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Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
D Han, J Ma, X Zhang, J Cai, J Li, T Tuerxun, C Hao, L Du, J Lei
Publication Date: 2014-09-30

Variant appearance in text: rs540796
PMID: 25266949
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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

European Journal Of Human Genetics : Ejhg
CL Snozek, SA Lagerstedt, TK Khoo, M Rubenfire, WL Isley, LJ Train, LM Baudhuin
Publication Date: 2009-01

Variant appearance in text: N/A
PMID: 18648394
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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: rs540796
PMID: 18300938
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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: PCSK9: V460V; rs540796
PMID: 17142622
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1380A>C p.Val460= synonymous_variant 9/12 -
ENST00000490692.1 n.2104A>C - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.728A>C p.Tyr243Ser missense_variant 7/10 -
NM_174936.4 c.1380A>C p.Val460= synonymous_variant 9/12 -
NR_110451.1 n.987A>C - non_coding_transcript_exon_variant 7/10 -