The F13B gene homepage

General information
Gene symbol F13B
Gene name coagulation factor XIII, B polypeptide
Chromosome 1
Chromosomal band q31.3
Imprinted Unknown
Genomic reference NG_012065.1
Transcript reference NM_001994.2
Exon/intron information NM_001994.2 exon/intron table
Associated with diseases F13BD
Citation reference(s) PubMed: McVey et al., 2020
Refseq URL Genomic reference sequence
Curators (1) Daniel J Hampshire
Total number of public variants reported 33
Unique public DNA variants reported 26
Individuals with public variants 22
Hidden variants 1
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created April 29, 2010
Date last updated September 15, 2020
Version F13B:200915

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_001994.2.
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 https://www.LOVD.nl/F13B
External URL EAHAD Coagulation Factor Variant Databases
HGNC 3534
Entrez Gene 2165
PubMed articles F13B
OMIM - Gene 134580
OMIM - Diseases F13BD (deficiency, factor XIII (B subunit) (F13BD))
HGMD F13B
GeneCards F13B
GeneTests F13B
Orphanet F13B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007351 1 coagulation factor XIII, B polypeptide NM_001994.2 NP_001985.2 33


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.