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General information
Gene symbol F9
Gene name coagulation factor IX
Chromosome X
Chromosomal band q27.1
Imprinted Unknown
Genomic reference NG_007994.1
Transcript reference NM_000133.3
Exon/intron information NM_000133.3
Associated with diseases HEMB, THPH-8, warfarin, resp.
Citation reference(s) Rallapalli et al., 2013
Refseq URL Genomic reference sequence
Curators (4) Daniel J Hampshire, Geoffrey Kemball-Cook, Keith Gomez and Stephen J Perkins
Total number of public variants reported 58
Unique public DNA variants reported 32
Individuals with public variants 54
Hidden variants 3786
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created September 13, 2012
Date last updated January 30, 2017
Version F9:170130

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/F9
External URL EAHAD Coagulation Factor Variant Databases
Factor IX Variant Database
Orphanet
HGNC 3551
Entrez Gene 2158
PubMed articles F9
OMIM - Gene 300746
OMIM - Diseases HEMB (hemophilia B (HEMB))
THPH-8 (thrombophilia, type 8, F9-related (THPH-8))
warfarin, resp. (warfarin response)
HGMD F9
GeneCards F9
GeneTests F9


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000394 X coagulation factor IX NM_000133.3 NP_000124.1 58


Copyright & disclaimer
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Mutation Databases are maintained and provided as a public service for the clinical, diagnostic and coagulation factor research communities. All individuals accessing and using the information contained in these mutation databases managed by EAHAD explicitly agree to abide by the database policy.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.