Variant ID: 1-55523035-A-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: 1028A>C; D343A
PMID: 23054246
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1028A>C p.Asp343Ala missense_variant 7/12 -
ENST00000490692.1 n.1818-66A>C - intron_variant,non_coding_transcript_variant - 3/7
ENST00000543384.1 c.428A>C p.Asp143Ala missense_variant 5/10 -
NM_174936.4 c.1028A>C p.Asp343Ala missense_variant 7/12 -
NR_110451.1 n.687A>C - non_coding_transcript_exon_variant 5/10 -