VWF c.3518G>T ;(p.C1173F)

Variant ID: 12-6131926-C-A

NM_000552.3(VWF):c.3518G>T;(p.C1173F)

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:

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Journal Of Clinical Medicine
Preisler, Barbara B; Pezeshkpoor, Behnaz B; Banchev, Atanas A; Fischer, Ronald R; Zieger, Barbara B; Scholz, Ute U; Rühl, Heiko H; Kemkes-Matthes, Bettina B; Schmitt, Ursula U; Redlich, Antje A; Unal, Sule S; Laws, Hans-Jürgen HJ; Olivieri, Martin M; Oldenburg, Johannes J; Pavlova, Anna A
Publication Date: 2021-01-18

Variant appearance in text: VWF: Cys1173Phe
PubMed Link: 33477601
Variant Present in the following documents:
  • jcm-10-00347.pdf
View BVdb publication page