Variant ID: 1-55527099-T-C

NM_174936.3(PCSK9):c.1733T>C;(p.Val578Ala)

This variant was identified in 1 publication



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

Publications:

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Nature Genetics
C Sidore, F Busonero, A Maschio, E Porcu, S Naitza, M Zoledziewska, A Mulas, G Pistis, M Steri, F Danjou, A Kwong, VD Ortega Del Vecchyo, CWK Chiang, J Bragg-Gresham, M Pitzalis, R Nagaraja, B Tarrier, C Brennan, S Uzzau, C Fuchsberger, R Atzeni, F Reinier, R Berutti, J Huang, NJ Timpson, D Toniolo, P Gasparini, G Malerba, G Dedoussis, E Zeggini, N Soranzo, C Jones, R Lyons, A Angius, HM Kang, J Novembre, S Sanna, D Schlessinger, F Cucca, GR Abecasis
Publication Date: 2015-11

Variant appearance in text: PCSK9: V578A
PMID: 26366554
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1733T>C p.Val578Ala missense_variant 11/12 -
ENST00000490692.1 n.2279T>C - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*280T>C - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1733T>C p.Val578Ala missense_variant 11/12 -
NR_110451.1 n.1340T>C - non_coding_transcript_exon_variant 9/10 -