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SLC6A14

Synonyms
BMIQ11
External resources
Summary
This gene encodes a member of the solute carrier family 6. Members of this family are sodium and chloride dependent neurotransmitter transporters. The encoded protein transports both neutral and cationic amino acids. This protein may also function as a beta-alanine carrier. Mutations in this gene may be associated with X-linked obesity. A pseudogene of this gene is found on chromosome X.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,328
Likely benign
549
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC6A14 gene.

Phenotype class
Patients in 3billion (%)

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