VWF c.1789_1791delinsTGA ;(p.R597*)

Variant ID: 12-6166177-ACG-TCA

NM_000552.3(VWF):c.1789_1791delinsTGA;(p.R597*)

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:

Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?

Journal Of Blood Medicine
Nurden, Alan A
Publication Date: 2021

Variant appearance in text: VWF: R597X
PubMed Link: 34267570
Variant Present in the following documents:
  • Main text
View BVdb publication page