Variant ID: 1-55515234-C-A

NM_174936.3(PCSK9):c.524-2717C>A

This variant was identified in 1 publication



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

Publications:

Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.

Plos One
SH Lye, JK Chahil, P Bagali, L Alex, J Vadivelu, WA Ahmad, SP Chan, MK Thong, SM Zain, R Mohamed
Publication Date: 2013

Variant appearance in text: rs12084215
PMID: 23593297
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.524-2717C>A - intron_variant - 3/11
ENST00000452118.2 c.524-1631C>A - intron_variant - 3/5
ENST00000543384.1 c.-77-2717C>A - intron_variant - 1/9
NM_174936.4 c.524-2717C>A - intron_variant - 3/11
NR_110451.1 n.183-2717C>A - intron_variant,non_coding_transcript_variant - 1/9