F13A1 gene homepage

General information
Gene symbol F13A1
Gene name coagulation factor XIII, A1 polypeptide
Chromosome 6
Chromosomal band p25.1
Imprinted Unknown
Genomic reference NG_008107.1
Transcript reference NM_000129.3
Exon/intron information NM_000129.3 exon/intron table
Associated with diseases F13AD, MCI-1, THPH-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 159
Unique public DNA variants reported 141
Individuals with public variants 143
Hidden variants 16
Download all this gene's data Download all data
Notes This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.
Date created May 03, 2013
Date last updated July 11, 2018
Version F13A1:180711

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_000129.3.
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 https://www.LOVD.nl/F13A1
External URL EAHAD Coagulation Factor Variant Databases
Orphanet
HGNC 3531
Entrez Gene 2162
PubMed articles F13A1
OMIM - Gene 134570
OMIM - Diseases F13AD (deficiency, factor XIII (A subunit) (F13AD))
MCI-1 (myocardial infarction, susceptibility to, type 1 (MCI-1))
THPH-1 (thrombophilia (THPH-1))
HGMD F13A1
GeneCards F13A1
GeneTests F13A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007350 6 coagulation factor XIII, A1 polypeptide NM_000129.3 NP_000120.2 159


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.