VWF c.4499C>T ;(p.A1500V)

Variant ID: 12-6128085-G-A

NM_000552.3(VWF):c.4499C>T;(p.A1500V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: Ala1500Val
PubMed Link: 27766062
Variant Present in the following documents:
  • Main text
  • 12959_2016_Article_92.pdf
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: VWF: A1500V
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page