ANO6 Chromosome 12
Anoctamin 6
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What This Gene Does
This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Anoctamins
Locus Type
gene with protein product
Location
12q12
Ensembl
ENSG00000177119
Associated Conditions (12)
ANO6-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Hydrocephalus
nonsyndromic
autosomal recessive 2
SCOTT SYNDROME
Melanoma
Uterine corpus endometrial carcinoma
Key Variants
RS12308034
Conflicting classifications of pathogenicity
Health Risk
RS137945983
Conflicting classifications of pathogenicity
ANO6-related disorder, ANO6-related disorder
Health Risk
RS140379296
Conflicting classifications of pathogenicity
Inborn genetic diseases, ANO6-related disorder, Inborn genetic diseases
Health Risk
RS140463382
Conflicting classifications of pathogenicity
Health Risk
RS142960268
Conflicting classifications of pathogenicity
Health Risk
RS1459460059
Conflicting classifications of pathogenicity
ANO6-related disorder, ANO6-related disorder
Health Risk
RS147136935
Conflicting classifications of pathogenicity
ANO6-related disorder, Inborn genetic diseases, ANO6-related disorder
Health Risk
RS148800881
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thyroid cancer, nonmedullary
Health Risk
RS201574204
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202121654
Conflicting classifications of pathogenicity
Health Risk
RS569876357
Conflicting classifications of pathogenicity
Health Risk
RS757121451
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS12308034 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS137945983 | Health Risk | Conflicting classifications of pathogenicity | ANO6-related disorder, ANO6-related disorder |
| RS140379296 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ANO6-related disorder, Inborn genetic diseases |
| RS140463382 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142960268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1459460059 | Health Risk | Conflicting classifications of pathogenicity | ANO6-related disorder, ANO6-related disorder |
| RS147136935 | Health Risk | Conflicting classifications of pathogenicity | ANO6-related disorder, Inborn genetic diseases, ANO6-related disorder |
| RS148800881 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thyroid cancer, nonmedullary |
| RS201574204 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202121654 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569876357 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757121451 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758435453 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS766416224 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS771713040 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774669551 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775982074 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1006218944 | Health Risk | Likely pathogenic | Malignant tumor of esophagus, Malignant tumor of esophagus |
| RS1942853161 | Health Risk | Likely pathogenic | ANO6-related disorder, ANO6-related disorder |
| RS2137629384 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS2547462651 | Health Risk | Likely pathogenic | — |
| RS2547518643 | Health Risk | Likely pathogenic | — |
| RS371269172 | Health Risk | Likely pathogenic | SCOTT SYNDROME, ANO6-related disorder, ANO6-related disorder |
| RS371740174 | Health Risk | Likely pathogenic | — |
| RS746960789 | Health Risk | Likely pathogenic | ANO6-related disorder, ANO6-related disorder |
| RS750168369 | Health Risk | Likely pathogenic | SCOTT SYNDROME, SCOTT SYNDROME |
| RS1171990069 | Health Risk | Pathogenic | — |
| RS1422575811 | Health Risk | Pathogenic | — |
| RS144406887 | Health Risk | Pathogenic | — |
| RS1943222436 | Health Risk | Pathogenic | — |
| RS1943227368 | Health Risk | Pathogenic | — |
| RS2137545693 | Health Risk | Pathogenic | — |
| RS2137575812 | Health Risk | Pathogenic | SCOTT SYNDROME, SCOTT SYNDROME |
| RS2525938436 | Health Risk | Pathogenic | — |
| RS2547492090 | Health Risk | Pathogenic | SCOTT SYNDROME, SCOTT SYNDROME |
| RS2547505917 | Health Risk | Pathogenic | — |
| RS2547523202 | Health Risk | Pathogenic | — |
| RS374664255 | Health Risk | Pathogenic | SCOTT SYNDROME, ANO6-related disorder, Melanoma |
| RS549442808 | Health Risk | Pathogenic | SCOTT SYNDROME, SCOTT SYNDROME |
| RS751953918 | Health Risk | Pathogenic | — |
| RS756474608 | Health Risk | Pathogenic | SCOTT SYNDROME, Uterine corpus endometrial carcinoma, SCOTT SYNDROME |
| RS761437689 | Health Risk | Pathogenic | SCOTT SYNDROME, SCOTT SYNDROME |
| RS769466283 | Health Risk | Pathogenic | — |