ATCAY Chromosome 19
ATCAY kinesin light chain interacting caytaxin
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What This Gene Does
This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"BCH domain containing |CRAL-TRIO lipid binding domain containing"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000167654
Associated Conditions (3)
Cayman type cerebellar ataxia
Familial cancer of breast
Inborn genetic diseases
Key Variants
RS147031440
Conflicting classifications of pathogenicity
Cayman type cerebellar ataxia, Familial cancer of breast, Inborn genetic diseases
Health Risk
RS199991972
Conflicting classifications of pathogenicity
Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
Health Risk
RS202077180
Conflicting classifications of pathogenicity
Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
Health Risk
RS368213837
Conflicting classifications of pathogenicity
Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
Health Risk
RS369876142
Conflicting classifications of pathogenicity
Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
Health Risk
RS373392142
Conflicting classifications of pathogenicity
Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
Health Risk
RS768556456
Conflicting classifications of pathogenicity
Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
Health Risk
RS2038943096
Pathogenic
Health Risk
RS2145248615
Pathogenic
Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
Health Risk
RS2145256501
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147031440 | Health Risk | Conflicting classifications of pathogenicity | Cayman type cerebellar ataxia, Familial cancer of breast, Inborn genetic diseases |
| RS199991972 | Health Risk | Conflicting classifications of pathogenicity | Cayman type cerebellar ataxia, Cayman type cerebellar ataxia |
| RS202077180 | Health Risk | Conflicting classifications of pathogenicity | Cayman type cerebellar ataxia, Cayman type cerebellar ataxia |
| RS368213837 | Health Risk | Conflicting classifications of pathogenicity | Cayman type cerebellar ataxia, Cayman type cerebellar ataxia |
| RS369876142 | Health Risk | Conflicting classifications of pathogenicity | Cayman type cerebellar ataxia, Cayman type cerebellar ataxia |
| RS373392142 | Health Risk | Conflicting classifications of pathogenicity | Cayman type cerebellar ataxia, Cayman type cerebellar ataxia |
| RS768556456 | Health Risk | Conflicting classifications of pathogenicity | Cayman type cerebellar ataxia, Cayman type cerebellar ataxia |
| RS2038943096 | Health Risk | Pathogenic | — |
| RS2145248615 | Health Risk | Pathogenic | Cayman type cerebellar ataxia, Cayman type cerebellar ataxia |
| RS2145256501 | Health Risk | Pathogenic | — |