Variant ID: 1-55525204-G-C

NM_174936.3(PCSK9):c.1549G>C;(p.Gly517Arg)

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 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: G517R
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1549G>C p.Gly517Arg missense_variant 10/12 -
ENST00000490692.1 n.2227+884G>C - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*96G>C - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1549G>C p.Gly517Arg missense_variant 10/12 -
NR_110451.1 n.1156G>C - non_coding_transcript_exon_variant 8/10 -