F8 c.2051A>T ;(p.E684V)

Variant ID: X-154176035-T-A

NM_000132.3(F8):c.2051A>T;(p.E684V)

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:

Combining mutations that modulate inter-subunit interactions and proteolytic inactivation enhance the stability of factor VIIIa.

Thrombosis And Haemostasis
Wakabayashi, H H; Wintermute, J M JM; Fay, P J PJ
Publication Date: 2014-07-03

Variant appearance in text: FVIII: Glu684Val
PubMed Link: 24599523
Variant Present in the following documents:
  • Main text
View BVdb publication page