CCDC50 Chromosome 3
Coiled-coil domain containing 50
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What This Gene Does
This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Associated Conditions (3)
CCDC50-related disorder
Autosomal dominant nonsyndromic hearing loss 44
Hearing impairment
Key Variants
RS138153104
Conflicting classifications of pathogenicity
CCDC50-related disorder, CCDC50-related disorder
Health Risk
RS138443787
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 44, Hearing impairment, Autosomal dominant nonsyndromic hearing loss 44
Health Risk
RS138707536
Conflicting classifications of pathogenicity
Health Risk
RS143628723
Conflicting classifications of pathogenicity
Health Risk
RS146653620
Conflicting classifications of pathogenicity
Health Risk
RS375535283
Conflicting classifications of pathogenicity
Health Risk
RS376222034
Conflicting classifications of pathogenicity
Health Risk
RS376689351
Conflicting classifications of pathogenicity
Health Risk
RS727502917
Conflicting classifications of pathogenicity
Health Risk
RS774946397
Conflicting classifications of pathogenicity
Health Risk
RS2108677025
Pathogenic
Autosomal dominant nonsyndromic hearing loss 44, Autosomal dominant nonsyndromic hearing loss 44
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138153104 | Health Risk | Conflicting classifications of pathogenicity | CCDC50-related disorder, CCDC50-related disorder |
| RS138443787 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 44, Hearing impairment, Autosomal dominant nonsyndromic hearing loss 44 |
| RS138707536 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143628723 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146653620 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375535283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376222034 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376689351 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727502917 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774946397 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2108677025 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 44, Autosomal dominant nonsyndromic hearing loss 44 |