VWF c.2289dup ;(p.S764Efs*16)

Variant ID: 12-6153609-T-TC

NM_000552.3(VWF):c.2289dup;(p.S764Efs*16)

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:

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.

Annals Of Laboratory Medicine
Kim, Hee Jung HJ; Kim, Soon Ki SK; Yoo, Ki Young KY; Lee, Ki O KO; Yun, Jae Won JW; Kim, Sun Hee SH; Kim, Hee Jin HJ; Park, Sang Kyu SK
Publication Date: 2019-11

Variant appearance in text: VWF: 2289dupG; S764Efs
PubMed Link: 31240882
Variant Present in the following documents:
  • Main text
  • alm-39-545.pdf
View BVdb publication page