The TBC1D24 gene homepage

General information
Gene symbol TBC1D24
Gene name TBC1 domain family, member 24
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_028170.1
Transcript reference NM_001199107.1, NM_020705.2
Exon/intron information NM_001199107.1 exon/intron table
Associated with diseases DFNA-65, DFNB-86, DOORS, EIEE-16, EPRPDC, FIME, ID, epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy, epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Philippe Campeau
Total number of public variants reported 215
Unique public DNA variants reported 132
Individuals with public variants 323
Hidden variants 28
Download all this gene's data Download all data
Date created December 14, 2012
Date last updated September 17, 2021
Version TBC1D24:210917

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_001199107.1.
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 29203
Entrez Gene 57465
PubMed articles TBC1D24
OMIM - Gene 613577
OMIM - Diseases DFNA-65 (deafness, autosomal dominant, type 65 (DFNA-65))
DFNB-86 (deafness, nonsyndromic, autosomal recessive, type 86 (DFNB-86))
DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation syndrome (DOORS))
EIEE-16 (encephalopathy, epileptic, early infantile, type 16 (EIEE-16))
EPRPDC (epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC))
FIME (epilepsy, myoclonic, infantile, familial (FIME))
HGMD TBC1D24
GeneCards TBC1D24
GeneTests TBC1D24
Orphanet TBC1D24


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001779 16 transcript variant 1 NM_001199107.1 NP_001186036.1 214
00023820 16 transcript variant 2 NM_020705.2 NP_065756.1 191


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