VWF c.3827T>G ;(p.L1276R)

Variant ID: 12-6128757-A-C

NM_000552.3(VWF):c.3827T>G;(p.L1276R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Origin and timing of de novo variants implicated in type 2 von Willebrand disease.

Journal Of Cellular And Molecular Medicine
Chen, Ming M; Shen, Ming-Ching MC; Chang, Shun-Ping SP; Ma, Gwo-Chin GC; Huang, Ying-Chih YC; Lin, Ching-Yeh CY
Publication Date: 2022-11

Variant appearance in text: VWF: Leu1276Arg
PubMed Link: 36226571
Variant Present in the following documents:
  • Main text
  • JCMM-26-5403.pdf
View BVdb publication page



De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.

Thrombosis Journal
Shen, Ming-Ching MC; Chen, Ming M; Ma, Gwo-Chin GC; Chang, Shun-Ping SP; Lin, Ching-Yeh CY; Lin, Bo-Do BD; Hsieh, Han-Ni HN
Publication Date: 2016

Variant appearance in text: VWF: Leu1276Arg
PubMed Link: 27766062
Variant Present in the following documents:
  • Main text
  • 12959_2016_Article_92.pdf
View BVdb publication page