KBTBD13 Chromosome 15

Kelch repeat and BTB domain containing 13
55 variants 55 Health Risk

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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
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