STRC Chromosome 15
Stereocilin
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What This Gene Does
This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
STRC-related disorder
Inborn genetic diseases
Spermatogenic failure 7
Autosomal recessive nonsyndromic hearing loss 16
Deafness-infertility syndrome
Rare genetic deafness
Autosomal dominant nonsyndromic hearing loss 16
Nonsyndromic genetic hearing loss
Key Variants
RS1342864499
Conflicting classifications of pathogenicity
STRC-related disorder, STRC-related disorder
Health Risk
RS141749062
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147963245
Conflicting classifications of pathogenicity
STRC-related disorder, Spermatogenic failure 7, Autosomal recessive nonsyndromic hearing loss 16
Health Risk
RS2614833
Conflicting classifications of pathogenicity
STRC-related disorder, Rare genetic deafness, STRC-related disorder
Health Risk
RS2915791
Conflicting classifications of pathogenicity
STRC-related disorder, STRC-related disorder
Health Risk
RS2920791
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder, Autosomal recessive nonsyndromic hearing loss 16
Health Risk
RS371994634
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder, Autosomal recessive nonsyndromic hearing loss 16
Health Risk
RS376104748
Conflicting classifications of pathogenicity
Rare genetic deafness, Autosomal dominant nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
Health Risk
RS377674360
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS727503441
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 16, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 16
Health Risk
RS727503449
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
Health Risk
RS748718937
Conflicting classifications of pathogenicity
STRC-related disorder, STRC-related disorder
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786200882 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16 |
| RS786200883 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16 |
| RS876657724 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS876657725 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder |
| RS876657726 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1366021609 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16 |
| RS139956283 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness |
| RS144948296 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 |
| RS199839039 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness, Inborn genetic diseases |
| RS576724182 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder, Autosomal recessive nonsyndromic hearing loss 16 |
| RS727503443 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness |
| RS748854592 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Spermatogenic failure 7, Deafness-infertility syndrome |
| RS755471554 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16 |
| RS759816064 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16 |
| RS764864372 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS778909195 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16, Deafness-infertility syndrome, Autosomal recessive nonsyndromic hearing loss 16 |