VWF c.4403C>T ;(p.T1468I)

Variant ID: 12-6128181-G-A

NM_000552.3(VWF):c.4403C>T;(p.T1468I)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Combined effects of two mutations in von Willebrand disease 2M phenotype.

Research And Practice In Thrombosis And Haemostasis
Woods, Adriana I AI; Paiva, Juvenal J; Kempfer, Ana C AC; Primrose, Debora M DM; Blanco, Alicia N AN; Sanchez-Luceros, Analía A; Lazzari, María A MA
Publication Date: 2018-01

Variant appearance in text: VWF: Thr1468Ile
PubMed Link: 30046717
Variant Present in the following documents:
  • Main text
  • RTH2-2-162.pdf
View BVdb publication page