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_006181.2, NM_020705.2
Associated with diseases DFNA-65, DFNB-86, DOORS, EIEE-16, epilepsy, FIME, ID, epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 20
Unique public DNA variants reported 13
Individuals with public variants 14
Hidden variants -
Date created November 30, -0001
Date last updated September 28, 2016
Version TBC1D24:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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))
FIME (epilepsy, myoclonic, infantile, familial (FIME))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014591 16 transcript variant 1 NM_001199107.1 NP_001186036.1 20
00014592 16 transcript variant 2 NM_020705.2 NP_065756.1 20
00031566 16 Manually created transcript (removed from reference sequence) NM_006181.2 - 4