SLC19A2 Chromosome 1
Solute carrier family 19 member 2
Upload your DNA to see your personal genotypes for variants in SLC19A2.
What This Gene Does
This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Solute carrier family 19
Locus Type
gene with protein product
Location
1q24.2
Ensembl
ENSG00000117479
Associated Conditions (9)
Monogenic diabetes
Inborn genetic diseases
Megaloblastic anemia
thiamine-responsive
with diabetes mellitus and sensorineural deafness
SLC19A2-related disorder
Ear malformation
Sensorineural hearing loss disorder
Lung cancer
Key Variants
RS1231702573
Conflicting classifications of pathogenicity
Monogenic diabetes, Inborn genetic diseases, Monogenic diabetes
Health Risk
RS1351692845
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
RS137970656
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
RS143780369
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
RS200879349
Conflicting classifications of pathogenicity
Health Risk
RS201489069
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
RS202049979
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
RS369937650
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
RS574924879
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61734338
Conflicting classifications of pathogenicity
Monogenic diabetes, Megaloblastic anemia, thiamine-responsive
Health Risk
RS750915834
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
RS756487822
Conflicting classifications of pathogenicity
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1231702573 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Inborn genetic diseases, Monogenic diabetes |
| RS1351692845 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS137970656 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS143780369 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS200879349 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201489069 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS202049979 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS369937650 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS574924879 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS61734338 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Megaloblastic anemia, thiamine-responsive |
| RS750915834 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS756487822 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS769397647 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS770374931 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS772129644 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS772886076 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS776444312 | Health Risk | Conflicting classifications of pathogenicity | SLC19A2-related disorder, SLC19A2-related disorder |
| RS928593954 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS945252214 | Health Risk | Conflicting classifications of pathogenicity | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1234256852 | Health Risk | Likely pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1658356896 | Health Risk | Likely pathogenic | — |
| RS1658540031 | Health Risk | Likely pathogenic | — |
| RS2101787377 | Health Risk | Likely pathogenic | — |
| RS2526240389 | Health Risk | Likely pathogenic | — |
| RS2526257147 | Health Risk | Likely pathogenic | — |
| RS554433074 | Health Risk | Likely pathogenic | — |
| RS1187002038 | Health Risk | Pathogenic | — |
| RS1308116371 | Health Risk | Pathogenic | — |
| RS1368720035 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1401027751 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1553211899 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1557894839 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1571531732 | Health Risk | Pathogenic | — |
| RS1571532822 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1571537544 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1571537879 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1658342879 | Health Risk | Pathogenic | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness |
| RS1658344975 | Health Risk | Pathogenic | — |
| RS1658354243 | Health Risk | Pathogenic | — |
| RS1658539563 | Health Risk | Pathogenic | Sensorineural hearing loss disorder, Sensorineural hearing loss disorder |
| RS2101781113 | Health Risk | Pathogenic | — |
| RS2526234131 | Health Risk | Pathogenic | — |
| RS2526236106 | Health Risk | Pathogenic | — |
| RS2526239717 | Health Risk | Pathogenic | — |
| RS2526240098 | Health Risk | Pathogenic | — |
| RS2526240104 | Health Risk | Pathogenic | — |
| RS2526256135 | Health Risk | Pathogenic | — |
| RS2526256741 | Health Risk | Pathogenic | — |
| RS2526256922 | Health Risk | Pathogenic | — |
| RS2526274169 | Health Risk | Pathogenic | — |