USH1C Chromosome 11
USH1 protein network component harmonin
Upload your DNA to see your personal genotypes for variants in USH1C.
What This Gene Does
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000006611
Associated Conditions (18)
Usher syndrome type 1C
Autosomal recessive nonsyndromic hearing loss 18A
See cases
Inborn genetic diseases
Hearing impairment
USH1C-related disorder
Gastric cancer
Malignant tumor of esophagus
Usher syndrome type 1
Retinal dystrophy
Meniere disease
Optic atrophy
Usher syndrome
Retinitis pigmentosa
Rare genetic deafness
Usher syndrome type 2
Hearing loss
autosomal recessive
Key Variants
RS1025205332
Conflicting classifications of pathogenicity
Usher syndrome type 1C, Usher syndrome type 1C
Health Risk
RS1040470628
Conflicting classifications of pathogenicity
Usher syndrome type 1C, Usher syndrome type 1C
Health Risk
RS1053537791
Conflicting classifications of pathogenicity
Health Risk
RS1060499916
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
Health Risk
RS1294759353
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS137962152
Conflicting classifications of pathogenicity
Usher syndrome type 1C, Usher syndrome type 1C
Health Risk
RS138996642
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
RS140869579
Conflicting classifications of pathogenicity
Usher syndrome type 1C, USH1C-related disorder, Gastric cancer
Health Risk
RS140945339
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
Health Risk
RS142801489
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C, Malignant tumor of esophagus
Health Risk
RS143160805
Conflicting classifications of pathogenicity
Health Risk
RS143923730
Conflicting classifications of pathogenicity
Usher syndrome type 1C, Usher syndrome type 1C
Health Risk
All Variants (217)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1565047971 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1591999307 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1850678559 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 2, Hearing impairment, Usher syndrome type 1C |
| RS1850741468 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C |
| RS1850985627 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS2497155607 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS2497187064 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1C, Usher syndrome type 1C |
| RS2497241574 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS371257969 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS397514500 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1 |
| RS756032457 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A |
| RS758555088 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, USH1C-related disorder |
| RS761465345 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1C, Usher syndrome type 1C |
| RS762551629 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, USH1C-related disorder |
| RS766327614 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1, Usher syndrome type 1C |
| RS775496999 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C |
| RS778110397 | Health Risk | Pathogenic/Likely pathogenic | Usher syndrome type 1C, Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A |