Variant ID: 1-55518352-C-T

NM_174936.3(PCSK9):c.687C>T;(p.His229His)

This variant was identified in 1 publication




Publications:


Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz
Publication Date: 2015-02

Variant appearance in text: PCSK9: H229H
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s013.docx
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.687C>T p.His229= synonymous_variant 5/12 -
ENST00000452118.2 c.*331C>T - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1508C>T - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.87C>T p.His29= synonymous_variant 3/10 -
NM_174936.4 c.687C>T p.His229= synonymous_variant 5/12 -
NR_110451.1 n.346C>T - non_coding_transcript_exon_variant 3/10 -