Variant ID: 1-55509642-C-T

NM_174936.3(PCSK9):c.334C>T;(p.Leu112Leu)

This variant was identified in 1 publication



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

Publications:

Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: PCSK9: L112L
PMID: 25412415
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.334C>T p.Leu112= synonymous_variant 2/12 -
ENST00000452118.2 c.334C>T p.Leu112= synonymous_variant 2/6 -
ENST00000543384.1 c.-78+3566C>T - intron_variant - 1/9
NM_174936.4 c.334C>T p.Leu112= synonymous_variant 2/12 -
NR_110451.1 n.182+3566C>T - intron_variant,non_coding_transcript_variant - 1/9