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Variant ID: 1-55518070-C-T
NM_174936.3(
PCSK9
):c.643C>T;(p.R215C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.
Arquivos Brasileiros De Cardiologia
Jannes, Cinthia Elim CE; Silvino, Júnea Paolucci Paiva JPP; Silva, Pãmela Rodrigues de Souza PRS; Lima, Isabella Ramos IR; Tada, Mauricio Teruo MT; Oliveira, Theo Gremen Mimary TGM; Santos, Raul D RD; Krieger, José Eduardo JE; Pereira, Alexandre da Costa ADC
Publication Date: 2022-02-07
Variant appearance in text: PCSK9: Arg215Cys
PubMed Link:
35137788
Variant Present in the following documents:
0066-782X-abc-118-04-0669.pdf
View BVdb publication page
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.
Plos One
Han, Soo Min SM; Hwang, Byungjin B; Park, Tae-gun TG; Kim, Do-Il DI; Rhee, Moo-Yong MY; Lee, Byoung-Kwon BK; Ahn, Young Keun YK; Cho, Byung Ryul BR; Woo, Jeongtaek J; Hur, Seung-Ho SH; Jeong, Jin-Ok JO; Park, Sungha S; Jang, Yangsoo Y; Lee, Min Goo MG; Bang, Duhee D; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2015
Variant appearance in text: PCSK9: 643C>T; R215C
PubMed Link:
25962062
Variant Present in the following documents:
Main text
View BVdb publication page