View TBX1 gene homepage

General information
Gene symbol TBX1
Gene name T-box 1
Chromosome 22
Chromosomal band q11.21
Imprinted Unknown
Genomic reference LRG_226
Transcript reference NM_080647.1
Associated with diseases CTHM, TOF, DiGeorge syndrome, velocardiofacial syndrome
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 5
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 11592
Entrez Gene 6899
PubMed articles TBX1
OMIM - Gene 602054
OMIM - Diseases CTHM (heart malformations,conotruncal (CTHM))
TOF (tetralogy of Fallot (TOF))
DiGeorge syndrome
velocardiofacial syndrome

Active transcripts




NCBI ID     

NCBI Protein ID     

00020852 22 transcript variant C NM_080647.1 NP_542378.1 4