Variant ID: 1-55523034-G-C


This variant was identified in 1 publication


Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: PCSK9: 1027G>C
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
  • jmedgenet-2012-101189-s1.pdf
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1027G>C p.Asp343His missense_variant 7/12 -
ENST00000490692.1 n.1818-67G>C - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.427G>C p.Asp143His missense_variant 5/10 -
NM_174936.4 c.1027G>C p.Asp343His missense_variant 7/12 -
NR_110451.1 n.686G>C - non_coding_transcript_exon_variant 5/10 -