rs80338849
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338849(A;A) |
| Make rs80338849(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 107683538 |
| Gene | SLC26A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338849 |
| dbSNP (classic) | rs80338849 |
| ClinGen | rs80338849 |
| ebi | rs80338849 |
| HLI | rs80338849 |
| Exac | rs80338849 |
| Gnomad | rs80338849 |
| Varsome | rs80338849 |
| LitVar | rs80338849 |
| Map | rs80338849 |
| PheGenI | rs80338849 |
| Biobank | rs80338849 |
| 1000 genomes | rs80338849 |
| hgdp | rs80338849 |
| ensembl | rs80338849 |
| geneview | rs80338849 |
| scholar | rs80338849 |
| rs80338849 | |
| pharmgkb | rs80338849 |
| gwascentral | rs80338849 |
| openSNP | rs80338849 |
| 23andMe | rs80338849 |
| SNPshot | rs80338849 |
| SNPdbe | rs80338849 |
| MSV3d | rs80338849 |
| GWAS Ctlg | rs80338849 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338849(A;A) rs80338849(T;T) |
| Alt | rs80338849(A;A) rs80338849(T;T) |
| Reference | Rs80338849(G;G) |
| Significance | Pathogenic |
| Disease | Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided SLC26A4-Related Disorders |
| Variation | info |
| Gene | SLC26A4 |
| CLNDBN | Pendred's syndrome Enlarged vestibular aqueduct syndrome not provided SLC26A4-Related Disorders |
| Reversed | 0 |
| HGVS | NC_000007.13:g.107323983G>A; NC_000007.13:g.107323983G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005088.3, RCV000036418.2, RCV000239276.3, RCV000390780.1, RCV000477914.1, RCV000411285.1, |
[PMID 9618166] Two frequent missense mutations in Pendred syndrome.
[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.
[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
[PMID 113173] The sella turcica (some lesser known dynamic features).
[PMID 10718825] A novel mutation in the pendrin gene associated with Pendred's 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 15279074] Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.
[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.
