Variant ID: 1-55521812-G-T

NM_174936.3(PCSK9):c.946G>T;(p.Gly316Cys)

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: G316C
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.946G>T p.Gly316Cys missense_variant 6/12 -
ENST00000490692.1 n.1767G>T - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.346G>T p.Gly116Cys missense_variant 4/10 -
NM_174936.4 c.946G>T p.Gly316Cys missense_variant 6/12 -
NR_110451.1 n.605G>T - non_coding_transcript_exon_variant 4/10 -