KBTBD13 Chromosome 15
Kelch repeat and BTB domain containing 13
Upload your DNA to see your personal genotypes for variants in KBTBD13.
What This Gene Does
The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
BTB domain containing
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000234438
Associated Conditions (3)
Nemaline myopathy 6
Inborn genetic diseases
KBTBD13-related disorder
Key Variants
RS1021462149
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
RS1048233904
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
RS1162054356
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Nemaline myopathy 6
Health Risk
RS1167697962
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
RS1177976401
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
RS1233365626
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
RS1257424632
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
RS1303411209
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Nemaline myopathy 6
Health Risk
RS1332816332
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
RS1384295949
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nemaline myopathy 6, Inborn genetic diseases
Health Risk
RS1456044134
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Nemaline myopathy 6
Health Risk
RS188146580
Conflicting classifications of pathogenicity
Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1021462149 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS1048233904 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS1162054356 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS1167697962 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS1177976401 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS1233365626 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS1257424632 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS1303411209 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS1332816332 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS1384295949 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Nemaline myopathy 6, Inborn genetic diseases |
| RS1456044134 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS188146580 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS200549195 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS201466173 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, KBTBD13-related disorder |
| RS2086991061 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS2087004754 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS2140545943 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS370691794 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS373039171 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS374196960 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS376673920 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS377035059 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS377071831 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS530549178 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS539760679 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS543844534 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS544721592 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS558291810 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, KBTBD13-related disorder |
| RS567309902 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS568675071 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, KBTBD13-related disorder, Nemaline myopathy 6 |
| RS749520412 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Nemaline myopathy 6, Inborn genetic diseases |
| RS749605981 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS753616960 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS753712072 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS755775428 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS755992942 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS758995387 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS759474251 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS760102500 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS760134475 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS760429732 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS767384093 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS767990371 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS770377239 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS771413223 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS777431652 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS779729198 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS779819069 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |
| RS886051334 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Nemaline myopathy 6 |
| RS903513958 | Health Risk | Conflicting classifications of pathogenicity | Nemaline myopathy 6, Inborn genetic diseases, Nemaline myopathy 6 |