ANO10 Chromosome 3
Anoctamin 10
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What This Gene Does
The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
Anoctamins
Locus Type
gene with protein product
Location
3p22.1-p21.33
Ensembl
ENSG00000160746
Associated Conditions (7)
Autosomal recessive spinocerebellar ataxia 10
Inborn genetic diseases
ANO10-related disorder
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Autosomal recessive cerebellar ataxia
Abnormal central motor function
Key Variants
RS1049122968
Conflicting classifications of pathogenicity
Health Risk
RS111871863
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS112787589
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS113187031
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS1260794121
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS1365986557
Conflicting classifications of pathogenicity
Health Risk
RS138000380
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS141040660
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS141806947
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS142862162
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS143322256
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
Health Risk
RS1451311121
Conflicting classifications of pathogenicity
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1049122968 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS111871863 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS112787589 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS113187031 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1260794121 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1365986557 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138000380 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS141040660 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS141806947 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 10 |
| RS142862162 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS143322256 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1451311121 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146432615 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS146569520 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Inborn genetic diseases, Autosomal recessive spinocerebellar ataxia 10 |
| RS147605535 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS147989825 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, ANO10-related disorder, Autosomal recessive spinocerebellar ataxia 10 |
| RS148873732 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149580265 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS150026260 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS184416837 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, ANO10-related disorder, Autosomal recessive spinocerebellar ataxia 10 |
| RS187425614 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS201340219 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2149402360 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2529446712 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS370365121 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373386030 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS531656357 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS545954936 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61732728 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, ANO10-related disorder, Autosomal recessive spinocerebellar ataxia 10 |
| RS761765455 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS765592794 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Uterine corpus endometrial carcinoma, Autosomal recessive spinocerebellar ataxia 10 |
| RS768148483 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS774494441 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS778730043 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780192694 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1206950481 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1285192900 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1553724533 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1575415900 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS2529327701 | Health Risk | Likely pathogenic | — |
| RS2529329129 | Health Risk | Likely pathogenic | — |
| RS2529790328 | Health Risk | Likely pathogenic | — |
| RS2529875985 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS749331668 | Health Risk | Likely pathogenic | — |
| RS761213683 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS797045240 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 10, Ovarian serous cystadenocarcinoma, Autosomal recessive spinocerebellar ataxia 10 |
| RS1176505942 | Health Risk | Pathogenic | — |
| RS1190384991 | Health Risk | Pathogenic | — |
| RS1210764379 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10 |
| RS1286072529 | Health Risk | Pathogenic | — |