Variant ID: 1-55517952-C-T

NM_174936.3(PCSK9):c.525C>T;(p.Asp175Asp)

This variant was identified in 1 publication



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

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: D175D; rs148612296
PMID: 25904937
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.525C>T p.Asp175= splice_region_variant,synonymous_variant 4/12 -
ENST00000452118.2 c.*169C>T - splice_region_variant,3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1346C>T - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.-76C>T - splice_region_variant,5_prime_UTR_variant 2/10 -
NM_174936.4 c.525C>T p.Asp175= splice_region_variant,synonymous_variant 4/12 -
NR_110451.1 n.184C>T - splice_region_variant,non_coding_transcript_exon_variant 2/10 -