rs80358277
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80358277(C;C) |
| Make rs80358277(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 40819465 |
| Gene | KCNQ4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358277 |
| dbSNP (classic) | rs80358277 |
| ClinGen | rs80358277 |
| ebi | rs80358277 |
| HLI | rs80358277 |
| Exac | rs80358277 |
| Gnomad | rs80358277 |
| Varsome | rs80358277 |
| LitVar | rs80358277 |
| Map | rs80358277 |
| PheGenI | rs80358277 |
| Biobank | rs80358277 |
| 1000 genomes | rs80358277 |
| hgdp | rs80358277 |
| ensembl | rs80358277 |
| geneview | rs80358277 |
| scholar | rs80358277 |
| rs80358277 | |
| pharmgkb | rs80358277 |
| gwascentral | rs80358277 |
| openSNP | rs80358277 |
| 23andMe | rs80358277 |
| SNPshot | rs80358277 |
| SNPdbe | rs80358277 |
| MSV3d | rs80358277 |
| GWAS Ctlg | rs80358277 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80358277(C;C) |
| Alt | rs80358277(C;C) |
| Reference | Rs80358277(G;G) |
| Significance | Pathogenic |
| Disease | DFNA 2 Nonsyndromic Hearing Loss Nonsyndromic hearing loss and deafness |
| Variation | info |
| Gene | KCNQ4 |
| CLNDBN | DFNA 2 Nonsyndromic Hearing Loss Nonsyndromic hearing loss and deafness |
| Reversed | 0 |
| HGVS | NC_000001.10:g.41285137G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006620.4, RCV000211784.1, |
[PMID 10369879] Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
[PMID 11450843] Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.
[PMID 11915881] Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.
[PMID 12112653] A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
