View TCOF1 gene homepage

General information
Gene symbol TCOF1
Gene name Treacher Collins-Franceschetti syndrome 1
Chromosome 5
Chromosomal band q32
Imprinted Unknown
Genomic reference NG_011341.1
Transcript reference NM_000356.3
Associated with diseases ID, TCS-1
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 2
Hidden variants 0
Date created May 03, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 11654
Entrez Gene 6949
PubMed articles TCOF1
OMIM - Gene 606847
OMIM - Diseases TCS-1 (Treacher Collins syndrome, type 1 (TCS-1))

Active transcripts




NCBI ID     

NCBI Protein ID     

00020915 5 transcript variant 2 NM_000356.3 NP_000347.2 1