Gene entry
TBCK
TBC1 domain containing kinase
- Chromosome
- 4
- Cytoband
- 4q24
- Variants (rsID)
- 32
TBCK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q24). Its official name is “TBC1 domain containing kinase”. The reference table lists 32 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs34840340Conflicting interpretationssingle nucleotide variant
- rs376699648Pathogenicsingle nucleotide variantHypotonia, infantile, with psychomotor retardation and characteristic facies 3|Syndromic Infantile Encephalopathy
- rs575822089Pathogenicsingle nucleotide variantHypotonia, infantile, with psychomotor retardation and characteristic facies 3|Inborn genetic diseases|Syndromic Infantile Encephalopathy
Other listed variants
- rs2212969
- rs11097920
- rs12512966
- rs17200445
- rs34307452
- rs35363222
- rs55971040
- rs74655765
- rs75269320
- rs75314903
- rs75624967
- rs78183977
- rs79150233
- rs79927904
- rs79947198
- rs80136007
- rs80285085
- rs115723993
- rs116463942
- rs116744057
- rs116849214
- rs117262838
- rs149453658
- rs150427564
- rs182899151
- rs185954446
- rs187869010
- rs199583403
- rs200883569
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.