rs111033257
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111033257(A;A) |
| Make rs111033257(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107700162 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033257 |
| dbSNP (classic) | rs111033257 |
| ClinGen | rs111033257 |
| ebi | rs111033257 |
| HLI | rs111033257 |
| Exac | rs111033257 |
| Gnomad | rs111033257 |
| Varsome | rs111033257 |
| LitVar | rs111033257 |
| Map | rs111033257 |
| PheGenI | rs111033257 |
| Biobank | rs111033257 |
| 1000 genomes | rs111033257 |
| hgdp | rs111033257 |
| ensembl | rs111033257 |
| geneview | rs111033257 |
| scholar | rs111033257 |
| rs111033257 | |
| pharmgkb | rs111033257 |
| gwascentral | rs111033257 |
| openSNP | rs111033257 |
| 23andMe | rs111033257 |
| SNPshot | rs111033257 |
| SNPdbe | rs111033257 |
| MSV3d | rs111033257 |
| GWAS Ctlg | rs111033257 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111033257(A;A) |
| Alt | rs111033257(A;A) |
| Reference | Rs111033257(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107340607G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036454.2, |
[PMID 192049] Substance P and primary afferent transmission.
[PMID 9618166] Two frequent missense mutations in Pendred syndrome.
[PMID 14508505] Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
[PMID 15689455
] SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
[PMID 15720248] Pathogenetics of the human SLC26 transporters.
[PMID 16950989] Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
