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 |
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
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