Variant ID: 1-55523035-A-C

NM_174936.3(PCSK9):c.1028A>C;(p.Asp343Ala)

This variant was identified in 1 publication



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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
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.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 -