OFD1 gene homepage

General information
Gene symbol OFD1
Gene name oral-facial-digital syndrome 1
Chromosome X
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_008872.1
Transcript reference NM_003611.2
Exon/intron information NM_003611.2 exon/intron table
Associated with diseases ID, JBTS-10, OFD-1, RP23, SGBS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 128
Unique public DNA variants reported 99
Individuals with public variants 245
Hidden variants 13
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated April 02, 2020
Version OFD1:200402

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_003611.2.
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 http://www.LOVD.nl/OFD1
External URL Orphanet
HGNC 2567
Entrez Gene 8481
PubMed articles OFD1
OMIM - Gene 300170
OMIM - Diseases JBTS-10 (Joubert syndrome, type 10 (JBTS-10))
OFD-1 (orofaciodigital syndrome, type I (OFD-1))
RP23 (retinitis pigmentosa, type 23 (RP23))
SGBS-2 (syndrome, Simpson-Golabi-Behmel, type 2 (SGBS-2))
GeneCards OFD1
GeneTests OFD1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000012 X oral-facial-digital syndrome 1 NM_003611.2 NP_003602.1 128

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