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ATCAY

Synonyms
BNIP-H, CLAC
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,911
Likely benign
1,508
Benign
1

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on ATCAY gene.

Phenotype class
Patients in 3billion (%)

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