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PCSK9 c.519C>G ;(p.P173=)
Variant ID: 1-55512315-C-G
NM_174936.3(
PCSK9
):c.519C>G;(p.P173=)
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:
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: 519C>G
PubMed Link:
34875256
Variant Present in the following documents:
main.pdf
View BVdb publication page