FTCD gene homepage

General information
Gene symbol FTCD
Gene name formiminotransferase cyclodeaminase
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_016191.1
Transcript reference NM_006657.2
Exon/intron information NM_006657.2 exon/intron table
Associated with diseases glutamate formiminotransferase deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 59
Unique public DNA variants reported 42
Individuals with public variants 3
Hidden variants 14
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created September 13, 2012
Date last updated July 12, 2019
Version FTCD:190712

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_006657.2.
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/FTCD
HGNC 3974
Entrez Gene 10841
PubMed articles FTCD
OMIM - Gene 606806
OMIM - Diseases glutamate formiminotransferase deficiency
HGMD FTCD
GeneCards FTCD
GeneTests FTCD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001470 21 transcript variant B NM_006657.2 NP_006648.1 59


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