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PCSK9 c.413C>G ;(p.P138R)
Variant ID: 1-55512209-C-G
NM_174936.3(
PCSK9
):c.413C>G;(p.P138R)
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:
Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?
Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2022
Variant appearance in text: PCSK9: 413C>G
PubMed Link:
34875256
Variant Present in the following documents:
main.pdf
View BVdb publication page
Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.
Practical Laboratory Medicine
Tada, Hayato H; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Hayashi, Kenshi K
Publication Date: 2015-04-01
Variant appearance in text: PCSK9: 413C>G
PubMed Link:
28932795
Variant Present in the following documents:
Main text
View BVdb publication page