SLC52A3 Chromosome 20
Solute carrier family 52 member 3
Upload your DNA to see your personal genotypes for variants in SLC52A3.
What This Gene Does
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. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"Solute carrier family 52|Flavoproteins"
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000101276
Associated Conditions (7)
Brown-Vialetto-van Laere syndrome 1
Inborn genetic diseases
Auditory neuropathy
Madras motor neuron disease
Progressive bulbar palsy of childhood
SLC52A3-related disorder
Monogenic hearing loss
Key Variants
RS1027231153
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1
Health Risk
RS1057524605
Conflicting classifications of pathogenicity
Health Risk
RS142157418
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1
Health Risk
RS142265627
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1
Health Risk
RS144337813
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1
Health Risk
RS145498634
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Auditory neuropathy
Health Risk
RS149622425
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1
Health Risk
RS150159842
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Progressive bulbar palsy of childhood
Health Risk
RS1555783543
Conflicting classifications of pathogenicity
Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
Health Risk
RS199588390
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, SLC52A3-related disorder
Health Risk
RS267606683
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
Health Risk
RS267606686
Conflicting classifications of pathogenicity
Brown-Vialetto-van Laere syndrome 1, Progressive bulbar palsy of childhood, Brown-Vialetto-van Laere syndrome 1
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1027231153 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS1057524605 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142157418 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS142265627 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS144337813 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS145498634 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Auditory neuropathy |
| RS149622425 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS150159842 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Progressive bulbar palsy of childhood |
| RS1555783543 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases |
| RS199588390 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, SLC52A3-related disorder |
| RS267606683 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS267606686 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Progressive bulbar palsy of childhood, Brown-Vialetto-van Laere syndrome 1 |
| RS749668781 | Health Risk | Conflicting classifications of pathogenicity | Progressive bulbar palsy of childhood, SLC52A3-related disorder, Progressive bulbar palsy of childhood |
| RS758815341 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS773916730 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, SLC52A3-related disorder, Brown-Vialetto-van Laere syndrome 1 |
| RS778479139 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS781769616 | Health Risk | Conflicting classifications of pathogenicity | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS1018903291 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1167512470 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555783467 | Health Risk | Likely pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS2514849071 | Health Risk | Likely pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS2514849190 | Health Risk | Likely pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS761224042 | Health Risk | Likely pathogenic | — |
| RS767263985 | Health Risk | Likely pathogenic | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Monogenic hearing loss |
| RS794728004 | Health Risk | Likely pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS1383679424 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS1486271481 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS1599959574 | Health Risk | Pathogenic | Progressive bulbar palsy of childhood, Progressive bulbar palsy of childhood |
| RS1986662202 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS2514848897 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS2514853352 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS267606685 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS267606688 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS754753126 | Health Risk | Pathogenic | Progressive bulbar palsy of childhood, Brown-Vialetto-van Laere syndrome 1, Progressive bulbar palsy of childhood |
| RS761042586 | Health Risk | Pathogenic | Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases |
| RS767916187 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS769740240 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS778363575 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Progressive bulbar palsy of childhood, Inborn genetic diseases |
| RS797045190 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |
| RS890871342 | Health Risk | Pathogenic | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS1568721373 | Health Risk | Pathogenic/Likely pathogenic | Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases, Brown-Vialetto-van Laere syndrome 1 |
| RS752218005 | Health Risk | Pathogenic/Likely pathogenic | Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1 |