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VWF c.4378C>G ;(p.L1460V)
Variant ID: 12-6128206-G-C
NM_000552.3(
VWF
):c.4378C>G;(p.L1460V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: VWF: 4378C>G; rs61750088
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: VWF: L1460V
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 3
12859_2015_673_MOESM2_ESM.xls, sheet 1
View BVdb publication page
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06
Variant appearance in text: VWF: L1460V
PubMed Link:
19665675
Variant Present in the following documents:
Main text
View BVdb publication page