Variant ID: 1-55527222-A-T

NM_174936.3(PCSK9):c.1856A>T;(p.Gln619Leu)

This variant was identified in 1 publication




Publications:


Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: rs28362277
PMID: 30779729
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1856A>T p.Gln619Leu missense_variant 11/12 -
ENST00000490692.1 n.2402A>T - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*403A>T - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1856A>T p.Gln619Leu missense_variant 11/12 -
NR_110451.1 n.1463A>T - non_coding_transcript_exon_variant 9/10 -