USH1G Chromosome 17
USH1 protein network component sans
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What This Gene Does
This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Sterile alpha motif domain containing"
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000182040
Associated Conditions (13)
Inborn genetic diseases
USH1G-related disorder
Usher syndrome type 1G
Retinal dystrophy
Clear cell carcinoma of kidney
Optic atrophy
Hearing impairment
Usher syndrome
Usher syndrome type 1
Deafness
Hearing loss
autosomal recessive
Rare genetic deafness
Key Variants
RS1187467461
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138590256
Conflicting classifications of pathogenicity
USH1G-related disorder, USH1G-related disorder
Health Risk
RS1394276163
Conflicting classifications of pathogenicity
Usher syndrome type 1G, Usher syndrome type 1G
Health Risk
RS139897506
Conflicting classifications of pathogenicity
Usher syndrome type 1G, USH1G-related disorder, Retinal dystrophy
Health Risk
RS141688757
Conflicting classifications of pathogenicity
Usher syndrome type 1G, Usher syndrome type 1G
Health Risk
RS142486910
Conflicting classifications of pathogenicity
Usher syndrome type 1G, USH1G-related disorder, Retinal dystrophy
Health Risk
RS144633924
Conflicting classifications of pathogenicity
Health Risk
RS145448362
Conflicting classifications of pathogenicity
Usher syndrome type 1G, Optic atrophy, Usher syndrome type 1G
Health Risk
RS147967199
Conflicting classifications of pathogenicity
USH1G-related disorder, USH1G-related disorder
Health Risk
RS149529031
Conflicting classifications of pathogenicity
Hearing impairment, Usher syndrome type 1G, Hearing impairment
Health Risk
RS199648830
Conflicting classifications of pathogenicity
Usher syndrome type 1G, Usher syndrome type 1G
Health Risk
RS199724052
Conflicting classifications of pathogenicity
Usher syndrome type 1G, Usher syndrome type 1G
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544432008 | Health Risk | Pathogenic | — |
| RS2544435210 | Health Risk | Pathogenic | Usher syndrome type 1G, Usher syndrome type 1G |
| RS2544435572 | Health Risk | Pathogenic | Usher syndrome type 1G, Usher syndrome type 1G |
| RS397515345 | Health Risk | Pathogenic | Usher syndrome type 1G, Usher syndrome type 1, Usher syndrome type 1G |
| RS587776546 | Health Risk | Pathogenic | Usher syndrome type 1G, Usher syndrome type 1, Usher syndrome type 1G |
| RS730880268 | Health Risk | Pathogenic | Usher syndrome type 1G, Usher syndrome type 1G |
| RS745328900 | Health Risk | Pathogenic | — |
| RS751695203 | Health Risk | Pathogenic | Usher syndrome type 1G, Usher syndrome type 1G |
| RS759953073 | Health Risk | Pathogenic | — |
| RS773231689 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS776149260 | Health Risk | Pathogenic | — |
| RS1337840598 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1G, Usher syndrome type 1G |
| RS1567939718 | Health Risk | Pathogenic/Likely pathogenic | Hearing impairment, Hearing impairment |
| RS1567939793 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |
| RS397517925 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Usher syndrome type 1G, Rare genetic deafness |
| RS886043626 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1G, Usher syndrome type 1G |
| RS928656346 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1G, Usher syndrome type 1G |