Variant ID: 1-55529063-G-C

NM_174936.3(PCSK9):c.1885G>C;(p.Gly629Arg)

This variant was identified in 1 publication




Publications:


Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Nature Genetics
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, A Kanapin, G Lunter, S Fiddy, C Allan, AR Aricescu, M Attar, C Babbs, J Becq, D Beeson, C Bento, P Bignell, E Blair, VJ Buckle, K Bull, O Cais, H Cario, H Chapel, RR Copley, R Cornall, J Craft, K Dahan, EE Davenport, C Dendrou, O Devuyst, AL Fenwick, J Flint, L Fugger, RD Gilbert, A Goriely, A Green, IH Greger, R Grocock, AV Gruszczyk, R Hastings, E Hatton, D Higgs, A Hill, C Holmes, M Howard, L Hughes, P Humburg, D Johnson, F Karpe, Z Kingsbury, U Kini, JC Knight, J Krohn, S Lamble, C Langman, L Lonie, J Luck, D McCarthy, SJ McGowan, MF McMullin, KA Miller, L Murray, AH Németh, MA Nesbit, D Nutt, E Ormondroyd, AB Oturai, A Pagnamenta, SY Patel, M Percy, N Petousi, P Piazza, SE Piret, G Polanco-Echeverry, N Popitsch, F Powrie, C Pugh, L Quek, PA Robbins, K Robson, A Russo, N Sahgal, PA van Schouwenburg, A Schuh, E Silverman, A Simmons, PS Sørensen, E Sweeney, J Taylor, RV Thakker, I Tomlinson, A Trebes, SR Twigg, HH Uhlig, P Vyas, T Vyse, SA Wall, H Watkins, MP Whyte, L Witty, B Wright, C Yau, D Buck, S Humphray, PJ Ratcliffe, JI Bell, AO Wilkie, D Bentley, P Donnelly, G McVean
Publication Date: 2015-07

Variant appearance in text: PCSK9: G629R
PubMed Link: 25985138
Variant Present in the following documents:
  • NIHMS63135-supplement-1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1885G>C p.Gly629Arg missense_variant 12/12 -
ENST00000490692.1 n.2431G>C - non_coding_transcript_exon_variant 8/8 -
ENST00000543384.1 c.*432G>C - 3_prime_UTR_variant 10/10 -
NM_174936.4 c.1885G>C p.Gly629Arg missense_variant 12/12 -
NR_110451.1 n.1492G>C - non_coding_transcript_exon_variant 10/10 -