Variant ID: 1-55527110-C-T

NM_174936.3(PCSK9):c.1744C>T;(p.Arg582*)

This variant was identified in 1 publication



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

Publications:

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: rs373323910
PMID: 27077130
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1744C>T p.Arg582* stop_gained 11/12 -
ENST00000490692.1 n.2290C>T - non_coding_transcript_exon_variant 7/8 -
ENST00000543384.1 c.*291C>T - 3_prime_UTR_variant 9/10 -
NM_174936.4 c.1744C>T p.Arg582* stop_gained 11/12 -
NR_110451.1 n.1351C>T - non_coding_transcript_exon_variant 9/10 -