Variant ID: 1-55512549-T-A

NM_174936.3(PCSK9):c.523+230T>A

This variant was identified in 5 publications




Publications:


Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
EM O'Connell, FW Lohoff
Publication Date: 2020

Variant appearance in text: N/A
PMID: 32595449
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Proprotein convertase subtilisin/kexin type 9 (PCSK9) in Alzheimer's disease: A genetic and proteomic multi-cohort study.

Plos One
C Picard, A Poirier, S Bélanger, A Labonté, D Auld, J Poirier,
Publication Date: 2019

Variant appearance in text: rs499718
PMID: 31437157
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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: rs499718
PMID: 25266949
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PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research
I Postmus, S Trompet, AJ de Craen, BM Buckley, I Ford, DJ Stott, N Sattar, PE Slagboom, RG Westendorp, JW Jukema
Publication Date: 2013-02

Variant appearance in text: rs499718
PMID: 23300213
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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: rs499718
PMID: 18300938
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.523+230T>A - intron_variant - 3/11
ENST00000452118.2 c.523+230T>A - intron_variant - 3/5
ENST00000543384.1 c.-77-5402T>A - intron_variant - 1/9
NM_174936.4 c.523+230T>A - intron_variant - 3/11
NR_110451.1 n.183-5402T>A - intron_variant,non_coding_transcript_variant - 1/9