VWF c.823T>C ;(p.C275R)

Variant ID: 12-6184552-A-G

NM_000552.3(VWF):c.823T>C;(p.C275R)

This variant was identified in 4 publications

View GRCh38 version.




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: C275R
PubMed Link: 35452508
Variant Present in the following documents:
  • Main text
  • advancesADV2022007216-suppl1.pdf
  • advancesADV2022007216.pdf
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The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Pagliari, Maria Teresa MT; Baronciani, Luciano L; Cordiglieri, Chiara C; Colpani, Paola P; Cozzi, Giovanna G; Siboni, Simona M SM; Peyvandi, Flora F
Publication Date: 2022-03

Variant appearance in text: VWF: Cys275Arg
PubMed Link: 35064738
Variant Present in the following documents:
  • Main text
  • HAE-28-292.pdf
View BVdb publication page



[The function and clinical value of Von Willebrand factor propeptide].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Yin, Jie J; Ruan, Changgeng C
Publication Date: 2015-10

Variant appearance in text: VWF: C275R
PubMed Link: 26477774
Variant Present in the following documents:
  • Main text
  • cjh-36-10-883.pdf
View BVdb publication page



Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis
Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC
Publication Date: 2013-08

Variant appearance in text: VWF: C275R
PubMed Link: 23702511
Variant Present in the following documents:
  • Main text
View BVdb publication page