The F12 gene homepage

General information
Gene symbol F12
Gene name coagulation factor XII (Hageman factor)
Chromosome 5
Chromosomal band q33-qter
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_000505.3
Exon/intron information NM_000505.3 exon/intron table
Associated with diseases F12D, HAE3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Christian Drouet
Total number of public variants reported 111
Unique public DNA variants reported 61
Individuals with public variants 575
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated September 18, 2023
Version F12:230918

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000505.3.
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
HGNC 3530
Entrez Gene 2161
PubMed articles F12
OMIM - Gene 610619
OMIM - Diseases F12D (deficiency, factor XII)
HAE3 (angioedema, hereditary, type III)
GeneCards F12
GeneTests F12
Orphanet F12

Active transcripts




NCBI ID     

NCBI Protein ID     

00007349 5 coagulation factor XII (Hageman factor) NM_000505.3 NP_000496.2 111

Copyright & disclaimer
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