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VWF c.5014G>C ;(p.G1672R)
Variant ID: 12-6127570-C-G
NM_000552.3(
VWF
):c.5014G>C;(p.G1672R)
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:
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Blood Advances
Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F
Publication Date: 2022-07-12
Variant appearance in text: VWF: G1672R
PubMed Link:
35452508
Variant Present in the following documents:
advancesADV2022007216.pdf
View BVdb publication page
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Journal Of Thrombosis And Haemostasis : Jth
Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL
Publication Date: 2013-02
Variant appearance in text: VWF: G1672R
PubMed Link:
23216583
Variant Present in the following documents:
Main text
View BVdb publication page