rs111033307
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | carrier of a Pendred Syndrome allele |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107694473 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033307 |
| dbSNP (classic) | rs111033307 |
| ClinGen | rs111033307 |
| ebi | rs111033307 |
| HLI | rs111033307 |
| Exac | rs111033307 |
| Gnomad | rs111033307 |
| Varsome | rs111033307 |
| LitVar | rs111033307 |
| Map | rs111033307 |
| PheGenI | rs111033307 |
| Biobank | rs111033307 |
| 1000 genomes | rs111033307 |
| hgdp | rs111033307 |
| ensembl | rs111033307 |
| geneview | rs111033307 |
| scholar | rs111033307 |
| rs111033307 | |
| pharmgkb | rs111033307 |
| gwascentral | rs111033307 |
| openSNP | rs111033307 |
| 23andMe | rs111033307 |
| SNPshot | rs111033307 |
| SNPdbe | rs111033307 |
| MSV3d | rs111033307 |
| GWAS Ctlg | rs111033307 |
| Max Magnitude | 3 |
rs111033307, also known as L445W, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.
| ClinVar | |
|---|---|
| Risk | Rs111033307(G;G) |
| Alt | Rs111033307(G;G) |
| Reference | Rs111033307(T;T) |
| Significance | Pathogenic |
| Disease | Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107334918T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005100.3, RCV000036437.3, RCV000413198.1, |
[PMID 96181] Linkage between a gene for a serum protein and the gene for the Ig kappa light chain in rabbits.
[PMID 10602116] Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
[PMID 11748854] Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
[PMID 18285825] A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
[PMID 18813951
] Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
[PMID 19204907] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
