ANKS6 Chromosome 9

Ankyrin repeat and sterile alpha motif domain containing 6
45 variants 45 Health Risk

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What This Gene Does
This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Sterile alpha motif domain containing|Inversin complex subunits"
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000165138
Associated Conditions (6)
Nephronophthisis 16
Inborn genetic diseases
ANKS6-related disorder
Thyroid cancer
nonmedullary
1
Key Variants
RS116621934
Conflicting classifications of pathogenicity
Nephronophthisis 16, Nephronophthisis 16
Health Risk
RS141766991
Conflicting classifications of pathogenicity
Inborn genetic diseases, Nephronophthisis 16, Inborn genetic diseases
Health Risk
RS150567578
Conflicting classifications of pathogenicity
Nephronophthisis 16, Inborn genetic diseases, Nephronophthisis 16
Health Risk
RS181546859
Conflicting classifications of pathogenicity
Nephronophthisis 16, Inborn genetic diseases, ANKS6-related disorder
Health Risk
RS1834431047
Conflicting classifications of pathogenicity
Nephronophthisis 16, Nephronophthisis 16
Health Risk
RS199653685
Conflicting classifications of pathogenicity
Nephronophthisis 16, Nephronophthisis 16
Health Risk
RS199851177
Conflicting classifications of pathogenicity
Nephronophthisis 16, Nephronophthisis 16
Health Risk
RS200201069
Conflicting classifications of pathogenicity
Nephronophthisis 16, ANKS6-related disorder, Inborn genetic diseases
Health Risk
RS200644058
Conflicting classifications of pathogenicity
Nephronophthisis 16, ANKS6-related disorder, Nephronophthisis 16
Health Risk
RS369774566
Conflicting classifications of pathogenicity
Nephronophthisis 16, Nephronophthisis 16
Health Risk
RS371456288
Conflicting classifications of pathogenicity
Nephronophthisis 16, Inborn genetic diseases, Nephronophthisis 16
Health Risk
RS374878706
Conflicting classifications of pathogenicity
Nephronophthisis 16, Nephronophthisis 16
Health Risk
All Variants (45)
RSID Category Clinical Significance Conditions
RS116621934 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS141766991 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephronophthisis 16, Inborn genetic diseases
RS150567578 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases, Nephronophthisis 16
RS181546859 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases, ANKS6-related disorder
RS1834431047 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS199653685 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS199851177 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS200201069 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, ANKS6-related disorder, Inborn genetic diseases
RS200644058 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, ANKS6-related disorder, Nephronophthisis 16
RS369774566 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS371456288 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases, Nephronophthisis 16
RS374878706 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS377750405 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS41283630 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS538147505 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases, ANKS6-related disorder
RS745881769 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, ANKS6-related disorder, Inborn genetic diseases
RS751509404 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases, ANKS6-related disorder
RS763588317 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS764745147 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS921372305 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS967738788 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS1458080834 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1834431706 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2131933650 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2490379427 Health Risk Likely pathogenic Nephronophthisis 16, Thyroid cancer, nonmedullary
RS897128993 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1009311413 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1190057558 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1352161022 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1438673595 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1554746855 Health Risk Pathogenic —
RS1564228101 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1564236717 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS1588420907 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2118054723 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2490390282 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2490403576 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2490410610 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS2490423643 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS397514258 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS587777024 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS587777025 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS756090222 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS369437168 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS397514257 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
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