SLC26A4 Chromosome 7
Solute carrier family 26 member 4
Upload your DNA to see your personal genotypes for variants in SLC26A4.
What This Gene Does
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 26
Locus Type
gene with protein product
Location
7q22.3
Ensembl
ENSG00000091137
Associated Conditions (17)
Hearing impairment
Pendred syndrome
Autosomal recessive nonsyndromic hearing loss 4
Rare genetic deafness
SLC26A4-related disorder
Congenital portosystemic shunt
Inborn genetic diseases
Hearing loss
autosomal recessive
Ear malformation
Deafness
Autosomal recessive SLC26A4-related disorders
RASopathy
Sensorineural hearing loss disorder
Monogenic hearing loss
Thymoma
Wolff-Parkinson-White pattern
Key Variants
RS1057518810
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS1057520369
Conflicting classifications of pathogenicity
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
Health Risk
RS111033207
Conflicting classifications of pathogenicity
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
Health Risk
RS111033255
Conflicting classifications of pathogenicity
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
Health Risk
RS111033310
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Hearing impairment
Health Risk
RS111033344
Conflicting classifications of pathogenicity
Health Risk
RS111033375
Conflicting classifications of pathogenicity
Health Risk
RS111033423
Conflicting classifications of pathogenicity
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
Health Risk
RS111033527
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS113516368
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
Health Risk
RS114473792
Conflicting classifications of pathogenicity
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
Health Risk
RS121908362
Conflicting classifications of pathogenicity
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Rare genetic deafness
Health Risk
All Variants (510)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1584317722 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS1584331188 | Health Risk | Pathogenic | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS1584344687 | Health Risk | Pathogenic | Pendred syndrome, Pendred syndrome |
| RS1790562755 | Health Risk | Pathogenic | — |
| RS1790959315 | Health Risk | Pathogenic | — |
| RS1791311163 | Health Risk | Pathogenic | — |
| RS1791496184 | Health Risk | Pathogenic | — |
| RS1791525285 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS1791526034 | Health Risk | Pathogenic | — |
| RS1791846977 | Health Risk | Pathogenic | SLC26A4-related disorder, SLC26A4-related disorder |
| RS1791873485 | Health Risk | Pathogenic | — |
| RS192366176 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS200455203 | Health Risk | Pathogenic | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome |
| RS201562855 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS201660407 | Health Risk | Pathogenic | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129308726 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129308766 | Health Risk | Pathogenic | — |
| RS2129309178 | Health Risk | Pathogenic | Pendred syndrome, Pendred syndrome |
| RS2129311265 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311271 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311273 | Health Risk | Pathogenic | — |
| RS2129311282 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311722 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311772 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311939 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311948 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311949 | Health Risk | Pathogenic | — |
| RS2129311951 | Health Risk | Pathogenic | Pendred syndrome, Pendred syndrome |
| RS2129311957 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129311961 | Health Risk | Pathogenic | Pendred syndrome, Pendred syndrome |
| RS2129314581 | Health Risk | Pathogenic | — |
| RS2129315787 | Health Risk | Pathogenic | — |
| RS2129315801 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129315827 | Health Risk | Pathogenic | — |
| RS2129316011 | Health Risk | Pathogenic | — |
| RS2129316898 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129316936 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129316944 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129317141 | Health Risk | Pathogenic | — |
| RS2129317533 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129317899 | Health Risk | Pathogenic | — |
| RS2129317908 | Health Risk | Pathogenic | — |
| RS2129318119 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129318234 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129318278 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129318300 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129318784 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS2129319916 | Health Risk | Pathogenic | — |
| RS2129319928 | Health Risk | Pathogenic | — |
| RS2129319932 | Health Risk | Pathogenic | — |