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 DFNA65, DFNB86, DOORS, EIEE16, 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 227
Unique public DNA variants reported 140
Individuals with public variants 329
Hidden variants 36
Download all this gene's data Download all data
Date created December 14, 2012
Date last updated November 08, 2023
Version TBC1D24:231108

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 DFNA65 (deafness, autosomal dominant, type 65 (DFNA-65))
DFNB86 (deafness, nonsyndromic, autosomal recessive, type 86 (DFNB-86))
DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation syndrome (DOORS))
EIEE16 (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))
GeneCards TBC1D24
GeneTests TBC1D24
Orphanet TBC1D24

Active transcripts




NCBI ID     

NCBI Protein ID     

00001779 16 transcript variant 1 NM_001199107.1 NP_001186036.1 226
00023820 16 transcript variant 2 NM_020705.2 NP_065756.1 195

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