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LDLR c.145A>G ;(p.S49G)
Variant ID: 19-11210976-A-G
NM_000527.4(
LDLR
):c.145A>G;(p.S49G)
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:
Applied pharmacogenomics in cardiovascular medicine.
Annual Review Of Medicine
Weeke, Peter P; Roden, Dan M DM
Publication Date: 2014
Variant appearance in text: LDLR: S49G
PubMed Link:
24111889
Variant Present in the following documents:
Main text
View BVdb publication page
Cardiovascular pharmacogenomics.
Circulation Research
Roden, Dan M DM; Johnson, Julie A JA; Kimmel, Stephen E SE; Krauss, Ronald M RM; Medina, Marisa Wong MW; Shuldiner, Alan A; Wilke, Russell A RA
Publication Date: 2011-09-16
Variant appearance in text: LDLR: Ser49Gly
PubMed Link:
21921273
Variant Present in the following documents:
Main text
View BVdb publication page