Variant ID: 1-55524313-G-A

NM_174936.3(PCSK9):c.1496G>A;(p.Arg499His)

This variant was identified in 1 publication




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: R499H
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.1496G>A p.Arg499His missense_variant 9/12 -
ENST00000490692.1 n.2220G>A - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.*43G>A - 3_prime_UTR_variant 7/10 -
NM_174936.4 c.1496G>A p.Arg499His missense_variant 9/12 -
NR_110451.1 n.1103G>A - non_coding_transcript_exon_variant 7/10 -