Variant ID: 1-55521784-G-C

NM_174936.3(PCSK9):c.918G>C;(p.Arg306Ser)

This variant was identified in 1 publication




Publications:


Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology
P Chen, X Chen, S Zhang
Publication Date: 2019

Variant appearance in text: PCSK9: R306S
PMID: 30949068
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.918G>C p.Arg306Ser missense_variant 6/12 -
ENST00000490692.1 n.1739G>C - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.318G>C p.Arg106Ser missense_variant 4/10 -
NM_174936.4 c.918G>C p.Arg306Ser missense_variant 6/12 -
NR_110451.1 n.577G>C - non_coding_transcript_exon_variant 4/10 -