Factor VII Variant Database

We maintain websites for genetic variants in the human coagulation factors F5, F7, F8, F9, F10, and F11 as a service for clinicians and biochemists.

F7 Variants

Factor VII deficiency is caused by variants in the gene that codes for coagulation factor VII. There are currently 221 unique variants in the F7 gene compiled within this database corresponding to 729 individual cases.

Citing Us

If you find this website useful, please reference our publications:
Saunders, R. E., O’Connell, N. M., Lee, C. A., Perry, D. J. & Perkins, S. J. (2005) The factor XI deficiency database: an interactive web database of mutations, phenotypes and structural analysis tools. Human Mutation, 26, 192-198. PM:16086308

Giansily-Blaizot, M., Rallapalli, P. M., Perkins, S. J., Kemball-Cook, G., Hampshire, D. J., Gomez, K., Ludlam, C. A. & McVey, J. H. (2020) The EAHAD Blood Coagulation Factor VII Variant Database. Human Mutation, 41, 1209-1219. PM:32333443

What can you do in this database?

This website allows you to search flexibly for F7 variant data and display them in many different ways. In order to help interpret their functional significance, we provide additional information such as amino-acid alignments and structural predictions (to estimate the effects of missense variants), together with information on common variants (also often referred to as polymorphisms) of F7. Full referencing where available is given via links to PubMed abstracts. We recommend you read the Support/Help Page which has a more detailed feature description.
For easy navigation across the website, please click for the Site Map.

Simple Nucleotide Search

cDNA

Simple Amino Acid Search

HGVS

Legacy

Mutation type Search

Type

Exon and Intron based search

Exon

Intron

Codon/Amino-acid numbering: HGVS and Legacy

The reference sequence used for FVII protein is NP_000122.1 and for its corresponding cDNA is NM_000131.4 . Codons and amino-acids are numbered on this site in two ways. In HGVS numbering, codons are numbered with codon +1 coding for the first residue (Met) of the 60-residue signal peptide/propeptide (this is -60 in Legacy numbering). In Legacy numbering, codon +1 refers to that coding for the first amino-acid of the mature FVIII protein (in HGVS numbering, this is codon +61). HGVS numbering is recommended, however Legacy numbering is extensively used in FVII publications, particularly before the year 2000.

Classification of Clinical Severity of Bleeding

Classification of Clinical Severity may use the severity classification for FVII deficiency proposed by Mariani et al 2005. The checklist below can be used as an aid to assigning severity.
Note: This section is not intended to be used to support interpretation of phenotypic severity data in cases already in the DB. For guidance on this DB users should refer back to the original publications to see what scheme was used. This information is intended as a guidance for submissions after 1 March 2017

Clinical Severity Severe Moderate Mild

CNS bleeding and/or GI bleeding and/or Hemarthrosis with or without other bleeding symptoms listed below Three or more bleeding symptoms listed below excluding CNS bleeding, GI bleeding or Hemarthrosis One or two bleeding symptoms listed below excluding CNS bleeding, GI bleeding or Hemarthrosis

Symptoms

Epistaxis

Easy bruising

Gum bleeding

Muscle hematoma

Hemarthrosis

GI bleeding

Hematuria

CNS bleeding

Post-operative bleeding

Menorrhagia

Have you or someone you know been diagnosed with Factor VII deficiency?

The information contained on this web site is provided for scientific research purposes only. We do not give medical advice or recommend any particular treatment for specific individuals. Click below for patient information on FVII deficiency:

Factor VII deficiency - OMIM #227500

What is FVII deficiency? - A World Federation of Hemophilia (WFH) Resource

Acknowledgements and Disclaimer

The following people worked on the 2021 version of the project:

Victoria A. Harris, UCL, London

Stephen J. Perkins, UCL , London

The FVII variants database was created in S.J. Perkins's laboratory at UCL in 2013. For the 2017 version of the database, the database was completed with a medical educational grant from European Association for Haemophilia and Allied Disorders (EAHAD).

The following people worked on the 2017 version of the project:

Pavithra M. Rallapalli, UCL, London

Muriel Giansily-Blaizot, University of Montpellier

Geoffrey Kemball-Cook, Royal Free Hospital, London

Daniel Hampshire, University of Hull

Keith Gomez, Royal Free Hospital, London

Christopher A. Ludlam, University of Edinburgh

John H. McVey, University of Surrey

Stephen J. Perkins, UCL, London

THIS CODE AND COLLECTION OF DATA ARE © Copyright 2003-, UNIVERSITY COLLEGE LONDON, AND MAY NOT BE DISTRIBUTED, SHARED OR OTHERWISE MADE AVAILABLE TO THIRD PARTIES WITHOUT THE EXPRESS PERMISSION OF THE AUTHOR, PROF S J PERKINS.

IN NO EVENT SHALL THE AUTHOR, OR ANY INSTITUTION IN WHICH HE IS WORKING (INCLUDING, BUT NOT LIMITED TO, UNIVERSITY COLLEGE LONDON), BE LIABLE TO ANY PARTY FOR DIRECT, INDIRECT, SPECIAL, INCIDENTAL, OR CONSEQUENTIAL DAMAGES, INCLUDING LOST PROFITS, ARISING OUT OF THE USE OF ANY DATA, SOFTWARE OR ITS DOCUMENTATION, PRODUCED BY THE AUTHOR OR ANY OTHER PARTIES WORKING FOR OR WITH THE AUTHOR, EVEN IF THE AUTHOR OR ASSOCIATED PARTIES HAVE BEEN ADVISED OF THE POSSIBILITY OF SUCH DAMAGE.

THE AUTHOR SPECIFICALLY DISCLAIMS ANY WARRANTIES, INCLUDING, BUT NOT LIMITED TO, THE IMPLIED WARRANTIES OF MERCHANTABILITY AND FITNESS FOR A PARTICULAR PURPOSE. ALL DATA AND SOFTWARE ARE PROVIDED ON AN "AS IS" BASIS, AND THE AUTHOR HAS NO OBLIGATIONS TO PROVIDE MAINTENANCE, SUPPORT, UPDATES, ENHANCEMENTS, OR MODIFICATIONS.

Latest Release- Version 2.0 (August 2017)

This website is under development. If you find any bugs or have any suggestions please email us at s.perkins(at)ucl.ac.uk

The information contained on this web site is provided for research purposes only. All information and content on this web site are protected by UCL copyright. All rights are reserved.

Thank you for visiting this site.

visitors since March 2015.
Factor VII Variant Database

© Copyright 2003, Structural Immunology Group , University College London, Gower Street, London WC1E 6BT
**No part of this site may be copied or used in any way without permission.**

Clinical Severity	Severe	Moderate	Mild
Clinical Severity	CNS bleeding and/or GI bleeding and/or Hemarthrosis with or without other bleeding symptoms listed below	Three or more bleeding symptoms listed below excluding CNS bleeding, GI bleeding or Hemarthrosis	One or two bleeding symptoms listed below excluding CNS bleeding, GI bleeding or Hemarthrosis
Symptoms
Epistaxis
Easy bruising
Gum bleeding
Muscle hematoma
Hemarthrosis
GI bleeding
Hematuria
CNS bleeding
Post-operative bleeding
Menorrhagia

Factor VII Gene (F7)

Variant Database

F7 Variants

Citing Us

What can you do in this database?

Simple Nucleotide Search

Simple Amino Acid Search

Mutation type Search

Exon and Intron based search

Codon/Amino-acid numbering: HGVS and Legacy

Classification of Clinical Severity of Bleeding

Have you or someone you know been diagnosed with Factor VII deficiency?

Acknowledgements and Disclaimer

Latest Release- Version 2.0 (August 2017)