Variant ID: 1-55521713-C-A

NM_174936.3(PCSK9):c.847C>A;(p.Leu283Met)

This variant was identified in 1 publication



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

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: rs72646510
PMID: 30779729
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.847C>A p.Leu283Met missense_variant 6/12 -
ENST00000490692.1 n.1668C>A - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.247C>A p.Leu83Met missense_variant 4/10 -
NM_174936.4 c.847C>A p.Leu283Met missense_variant 6/12 -
NR_110451.1 n.506C>A - non_coding_transcript_exon_variant 4/10 -