PCSK9 c.1027G>C ;(p.D343H)

Variant ID: 1-55523034-G-C

NM_174936.3(PCSK9):c.1027G>C;(p.D343H)

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: 1027G>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