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LDLR c.1118_1121dup ;(p.Y375Wfs*7)
Variant ID: 19-11222244-A-AGGGT
NM_000527.4(
LDLR
):c.1118_1121dup;(p.Y375Wfs*7)
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:
Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.
Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10
Variant appearance in text: rs875989916
PubMed Link:
33079599
Variant Present in the following documents:
hcg-13-515-s001.pdf
View BVdb publication page