VWF c.2220G>A ;(p.M740I)

Variant ID: 12-6155950-C-T

NM_000552.3(VWF):c.2220G>A;(p.M740I)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: VWF: M740I; rs2228317
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2228317
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Von Willebrand disease type Vicenza: In search of a classification for the archetype of reduced von Willebrand factor survival.

Ejhaem
Casonato, Alessandra A; Galletta, Eva E; Galvanin, Federico F; Daidone, Viviana V
Publication Date: 2021-08

Variant appearance in text: VWF: M740I
PubMed Link: 35844701
Variant Present in the following documents:
  • Main text
  • JHA2-2-340.pdf
View BVdb publication page



Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Research And Practice In Thrombosis And Haemostasis
Dubois, Marie-Daniéla MD; Peyron, Ivan I; Pierre-Louis, Olivier-Nicolas ON; Pierre-Louis, Serge S; Rabout, Johalène J; Boisseau, Pierre P; de Jong, Annika A; Susen, Sophie S; Goudemand, Jenny J; Neviere, Rémi R; Fuseau, Pascal P; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Casari, Caterina C
Publication Date: 2022-05

Variant appearance in text: VWF: 2220G>A; Met740Ile
PubMed Link: 35734101
Variant Present in the following documents:
  • Main text
  • RTH2-6-e12737.pdf
View BVdb publication page



Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021

Variant appearance in text: VWF: M740I; rs2228317
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
View BVdb publication page



Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.

Medical Archives (Sarajevo, Bosnia And Herzegovina)
Alzahrani, Faisal M FM; Aldossary, Nemat N; Hassan, Fathelrahman Mahdi FM
Publication Date: 2020-10

Variant appearance in text: VWF: M740I
PubMed Link: 33424085
Variant Present in the following documents:
  • Main text
  • medarch-74-337.pdf
View BVdb publication page



A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient.

Th Open : Companion Journal To Thrombosis And Haemostasis
Dubois, Marie Daniela MD; Pierre-Louis, Serge S; Rabout, Johalène J; Denis, Cécile V CV; Christophe, Olivier O; Susen, Sophie S; Goudemand, Jenny J; Boisseau, Pierre P; Neviere, Rémi R; Pierre-Louis, Olivier O
Publication Date: 2020-10

Variant appearance in text: VWF: Met740Ile
PubMed Link: 33134807
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0040-1718703.pdf
View BVdb publication page



Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Haematologica
Borràs, Nina N; Orriols, Gerard G; Batlle, Javier J; Pérez-Rodríguez, Almudena A; Fidalgo, Teresa T; Martinho, Patricia P; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Parra, Rafael R; Altisent, Carme C; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Mingot-Castellano, María Eva ME; Navarro, Nira N; Pérez-Montes, Rocío R; Marcellin, Sally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández-Mosteirín, Núria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés-Jacob, Aurora A; Fontanes, Emilia E; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Ruben R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Quismondo, Nerea Castro NC; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I
Publication Date: 2019-03

Variant appearance in text: rs2228317
PubMed Link: 30361419
Variant Present in the following documents:
  • Main text
View BVdb publication page



Von Willebrand disease in the elderly: clinical perspectives.

Clinical Interventions In Aging
Chapin, John J
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 30214173
Variant Present in the following documents:
View BVdb publication page



Advances in the diagnosis and treatment of Von Willebrand disease.

Hematology. American Society Of Hematology. Education Program
Sharma, Ruchika R; Flood, Veronica H VH
Publication Date: 2017-12-08

Variant appearance in text: VWF: M740I
PubMed Link: 29222282
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in the diagnosis and treatment of Von Willebrand disease.

Blood
Sharma, Ruchika R; Flood, Veronica H VH
Publication Date: 2017-11-30

Variant appearance in text: VWF: M740I
PubMed Link: 29187375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: VWF: 2220G>A; Met740Ile
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Plos One
Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P
Publication Date: 2016

Variant appearance in text: VWF: M740I
PubMed Link: 27532107
Variant Present in the following documents:
  • Main text
  • pone.0161310.pdf
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: VWF: M740I
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
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: M740I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: VWF: M740I
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.

Blood
Johnsen, Jill M JM; Auer, Paul L PL; Morrison, Alanna C AC; Jiao, Shuo S; Wei, Peng P; Haessler, Jeffrey J; Fox, Keolu K; McGee, Sean R SR; Smith, Joshua D JD; Carlson, Christopher S CS; Smith, Nicholas N; Boerwinkle, Eric E; Kooperberg, Charles C; Nickerson, Deborah A DA; Rich, Stephen S SS; Green, David D; Peters, Ulrike U; Cushman, Mary M; Reiner, Alex P AP; ,
Publication Date: 2013-07-25

Variant appearance in text: VWF: Met740Ile
PubMed Link: 23690449
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth
Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,
Publication Date: 2013-03

Variant appearance in text: VWF: 2220G>A; Met740Ile
PubMed Link: 23311757
Variant Present in the following documents:
  • Main text
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: M740I
PubMed Link: 23216583
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: N/A
PubMed Link: 22431572
Variant Present in the following documents:
View BVdb publication page



VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood
Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR
Publication Date: 2012-03-01

Variant appearance in text: N/A
PubMed Link: 22197721
Variant Present in the following documents:
View BVdb publication page



Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models.

Blood
Pruss, Cynthia M CM; Golder, Mia M; Bryant, Andrea A; Hegadorn, Carol A CA; Burnett, Erin E; Laverty, Kimberly K; Sponagle, Kate K; Dhala, Aly A; Notley, Colleen C; Haberichter, Sandra S; Lillicrap, David D
Publication Date: 2011-04-21

Variant appearance in text: N/A
PubMed Link: 21346256
Variant Present in the following documents:
View BVdb publication page



Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

Journal Of Thrombosis And Haemostasis : Jth
Gézsi, A A; Budde, U U; Deák, I I; Nagy, E E; Mohl, A A; Schlammadinger, A A; Boda, Z Z; Masszi, T T; Sadler, J E JE; Bodó, I I
Publication Date: 2010-06

Variant appearance in text: VWF: M740I
PubMed Link: 20088930
Variant Present in the following documents:
  • Main text
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: M740I
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.

Haematologica
Federici, Augusto B AB; Canciani, Maria T MT
Publication Date: 2009-05

Variant appearance in text: VWF: M740I
PubMed Link: 19407316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Blood
Haberichter, Sandra L SL; Castaman, Giancarlo G; Budde, Ulrich U; Peake, Ian I; Goodeve, Anne A; Rodeghiero, Francesco F; Federici, Augusto B AB; Batlle, Javier J; Meyer, Dominique D; Mazurier, Claudine C; Goudemand, Jenny J; Eikenboom, Jeroen J; Schneppenheim, Reinhard R; Ingerslev, Jorgen J; Vorlova, Zdena Z; Habart, David D; Holmberg, Lars L; Lethagen, Stefan S; Pasi, John J; Hill, Frank G H FG; Montgomery, Robert R RR
Publication Date: 2008-05-15

Variant appearance in text: VWF: M740I
PubMed Link: 18344424
Variant Present in the following documents:
  • Main text
View BVdb publication page