SLC17A8 Chromosome 12
Solute carrier family 17 member 8
Upload your DNA to see your personal genotypes for variants in SLC17A8.
What This Gene Does
This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Solute carrier family 17
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000179520
Associated Conditions (3)
Autosomal dominant nonsyndromic hearing loss 25
SLC17A8-related disorder
Inborn genetic diseases
Key Variants
RS11568530
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
Health Risk
RS138307707
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 25, SLC17A8-related disorder, Autosomal dominant nonsyndromic hearing loss 25
Health Risk
RS140537845
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
Health Risk
RS141294063
Conflicting classifications of pathogenicity
Health Risk
RS141689561
Conflicting classifications of pathogenicity
SLC17A8-related disorder, SLC17A8-related disorder
Health Risk
RS201180712
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 25, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 25
Health Risk
RS373954823
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374356596
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
Health Risk
RS748076639
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
Health Risk
RS767334253
Conflicting classifications of pathogenicity
SLC17A8-related disorder, SLC17A8-related disorder
Health Risk
RS77232189
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121918339
Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11568530 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS138307707 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 25, SLC17A8-related disorder, Autosomal dominant nonsyndromic hearing loss 25 |
| RS140537845 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS141294063 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141689561 | Health Risk | Conflicting classifications of pathogenicity | SLC17A8-related disorder, SLC17A8-related disorder |
| RS201180712 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 25, Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 25 |
| RS373954823 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374356596 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS748076639 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS767334253 | Health Risk | Conflicting classifications of pathogenicity | SLC17A8-related disorder, SLC17A8-related disorder |
| RS77232189 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS121918339 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS1366688487 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS1952754017 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS2135999616 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |
| RS2500206106 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25 |