Variant ID: 1-55517861-C-G

NM_174936.3(PCSK9):c.524-90C>G

This variant was identified in 2 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs613855
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
View BVdb publication page


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: rs613855
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.524-90C>G - intron_variant - 3/11
ENST00000452118.2 c.*168-90C>G - intron_variant - 4/5
ENST00000490692.1 n.1255C>G - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-77-90C>G - intron_variant - 1/9
NM_174936.4 c.524-90C>G - intron_variant - 3/11
NR_110451.1 n.183-90C>G - intron_variant,non_coding_transcript_variant - 1/9