Variant ID: 1-55518418-C-T

NM_174936.3(PCSK9):c.753C>T;(p.Arg251Arg)

This variant was identified in 1 publication



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

Publications:

PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 753C>T; R251R; rs28385710
PubMed Link: 25904937
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.753C>T p.Arg251= synonymous_variant 5/12 -
ENST00000452118.2 c.*397C>T - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1574C>T - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.153C>T p.Arg51= synonymous_variant 3/10 -
NM_174936.4 c.753C>T p.Arg251= synonymous_variant 5/12 -
NR_110451.1 n.412C>T - non_coding_transcript_exon_variant 3/10 -