F8 c.6743G>A ;(p.W2248*)

Variant ID: X-154088864-C-T

NM_000132.3(F8):c.6743G>A;(p.W2248*)

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:

Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene.

Research And Practice In Thrombosis And Haemostasis
Inaba, Hiroshi H; Shinozawa, Keiko K; Amano, Kagehiro K; Fukutake, Katsuyuki K
Publication Date: 2017-10

Variant appearance in text: F8: 6743G>A; Trp2248Ter
PubMed Link: 30046696
Variant Present in the following documents:
  • Main text
  • RTH2-1-264.pdf
View BVdb publication page