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PCSK9 c.1028A>C ;(p.D343A)
Variant ID: 1-55523035-A-C
NM_174936.3(
PCSK9
):c.1028A>C;(p.D343A)
This variant was identified in 1 publication
View GRCh38 version.
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
Futema, Marta M; Plagnol, Vincent V; Whittall, Ros A RA; Neil, H Andrew W HA; , ; Humphries, Steve Eric SE; ,
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
jmedgenet-2012-101189.pdf
View BVdb publication page