rs111033220
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a mutation for Pendred syndrome (hearing loss) |
| (T;T) | 5 | Pendred syndrome (hearing loss) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107690203 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033220 |
| dbSNP (classic) | rs111033220 |
| ClinGen | rs111033220 |
| ebi | rs111033220 |
| HLI | rs111033220 |
| Exac | rs111033220 |
| Gnomad | rs111033220 |
| Varsome | rs111033220 |
| LitVar | rs111033220 |
| Map | rs111033220 |
| PheGenI | rs111033220 |
| Biobank | rs111033220 |
| 1000 genomes | rs111033220 |
| hgdp | rs111033220 |
| ensembl | rs111033220 |
| geneview | rs111033220 |
| scholar | rs111033220 |
| rs111033220 | |
| pharmgkb | rs111033220 |
| gwascentral | rs111033220 |
| openSNP | rs111033220 |
| 23andMe | rs111033220 |
| SNPshot | rs111033220 |
| SNPdbe | rs111033220 |
| MSV3d | rs111033220 |
| GWAS Ctlg | rs111033220 |
| Max Magnitude | 5 |
rs111033220, also known as c.1229C>T, p.Thr410Met and T410M, represents a rare mutation in the SLC26A4 gene.
Inherited recessively, this variant is considered pathogenic for Pendred Syndrome, manifest as hearing loss and enlarged vestibular aqueduct syndrome.
| ClinVar | |
|---|---|
| Risk | Rs111033220(T;T) |
| Alt | Rs111033220(T;T) |
| Reference | Rs111033220(C;C) |
| Significance | Pathogenic |
| Disease | Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107330648C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000036430.2, RCV000268093.1, |
[PMID 119323] Effect of mannitol on the traumatized spinal cord. Microangiography, blood flow patterns, and electrophysiology.
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 10700480] Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
[PMID 11919333] Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
[PMID 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
