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SLC52A3

Synonyms
BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2
External resources
Summary
This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease.

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
3,810
Likely benign
573
Benign
153

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC52A3 gene.

Phenotype class
Patients in 3billion (%)

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