VWF c.385C>A ;(p.L129M)

Variant ID: 12-6219687-G-T

NM_000552.3(VWF):c.385C>A;(p.L129M)

This variant was identified in 5 publications

View GRCh38 version.




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: 385C>A; rs61753991
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Group association test using a hidden Markov model.

Biostatistics (Oxford, England)
Cheng, Yichen Y; Dai, James Y JY; Kooperberg, Charles C
Publication Date: 2016-04

Variant appearance in text: VWF: Leu129Met; rs61753991
PubMed Link: 26420797
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: 385C>A; Leu129Met
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: L129M
PubMed Link: 23216583
Variant Present in the following documents:
  • Main text
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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: VWF: L129M
PubMed Link: 22197721
Variant Present in the following documents:
  • Main text
View BVdb publication page