Variant ID: 1-55529084-A-C


This variant was identified in 2 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: N/A
PubMed Link: 33173529
Variant Present in the following documents:
View BVdb publication page

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: 1906A>C; Ser636Arg
PubMed Link: 29127338
Variant Present in the following documents:
  • 41598_2017_15543_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1906A>C p.Ser636Arg missense_variant 12/12 -
ENST00000490692.1 n.2452A>C - non_coding_transcript_exon_variant 8/8 -
ENST00000543384.1 c.*453A>C - 3_prime_UTR_variant 10/10 -
NM_174936.4 c.1906A>C p.Ser636Arg missense_variant 12/12 -
NR_110451.1 n.1513A>C - non_coding_transcript_exon_variant 10/10 -