MYO7A Chromosome 11
Myosin VIIA
Upload your DNA to see your personal genotypes for variants in MYO7A.
What This Gene Does
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"A-kinase anchoring proteins|Myosin heavy chains, class VII|FERM domain containing"
Locus Type
gene with protein product
Location
11q13.5
Ensembl
ENSG00000137474
Associated Conditions (40)
Autosomal recessive nonsyndromic hearing loss 2
Usher syndrome type 1
Usher syndrome type 1B
Usher syndrome
Autosomal dominant nonsyndromic hearing loss 11
MYO7A-related disorder
Inborn genetic diseases
Hearing impairment
Retinal dystrophy
Deafness
Hearing loss
autosomal recessive
See cases
Optic atrophy
Retinitis pigmentosa
Pendred syndrome
Meniere disease
Cone-rod dystrophy
Nonsyndromic genetic hearing loss
Auditory neuropathy
+20 more conditions
Key Variants
RS1029122324
Conflicting classifications of pathogenicity
Health Risk
RS111033219
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Usher syndrome type 1B
Health Risk
RS111033221
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
Health Risk
RS111033227
Conflicting classifications of pathogenicity
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
Health Risk
RS111033228
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
Health Risk
RS111033229
Conflicting classifications of pathogenicity
Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
Health Risk
RS111033230
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
Health Risk
RS111033252
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
Health Risk
RS111033287
Conflicting classifications of pathogenicity
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
Health Risk
RS111033416
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Usher syndrome type 1B
Health Risk
RS111033504
Conflicting classifications of pathogenicity
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
Health Risk
RS111033507
Conflicting classifications of pathogenicity
Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
Health Risk
All Variants (982)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135478294 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 11, Autosomal dominant nonsyndromic hearing loss 11 |
| RS2135478379 | Health Risk | Pathogenic | — |
| RS2135486189 | Health Risk | Pathogenic | — |
| RS2135493809 | Health Risk | Pathogenic | — |
| RS2135504652 | Health Risk | Pathogenic | — |
| RS2135550200 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2 |
| RS2135575726 | Health Risk | Pathogenic | — |
| RS2135620410 | Health Risk | Pathogenic | — |
| RS2135620605 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2 |
| RS2135627311 | Health Risk | Pathogenic | — |
| RS2135658805 | Health Risk | Pathogenic | — |
| RS2135659017 | Health Risk | Pathogenic | — |
| RS2135670160 | Health Risk | Pathogenic | — |
| RS2135680215 | Health Risk | Pathogenic | — |
| RS2135681132 | Health Risk | Pathogenic | — |
| RS2135698596 | Health Risk | Pathogenic | — |
| RS2135699140 | Health Risk | Pathogenic | — |
| RS2135699333 | Health Risk | Pathogenic | — |
| RS2135721049 | Health Risk | Pathogenic | — |
| RS2135732554 | Health Risk | Pathogenic | — |
| RS2135733393 | Health Risk | Pathogenic | Ear malformation, Ear malformation |
| RS2135733500 | Health Risk | Pathogenic | — |
| RS2135739702 | Health Risk | Pathogenic | — |
| RS2135762199 | Health Risk | Pathogenic | — |
| RS2135784410 | Health Risk | Pathogenic | — |
| RS2135785861 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11 |
| RS2135785880 | Health Risk | Pathogenic | Usher syndrome type 1, Usher syndrome type 1 |
| RS2135790890 | Health Risk | Pathogenic | — |
| RS2135791384 | Health Risk | Pathogenic | — |
| RS2135791473 | Health Risk | Pathogenic | — |
| RS2135798718 | Health Risk | Pathogenic | — |
| RS2135798786 | Health Risk | Pathogenic | Usher syndrome type 1, Hearing loss, autosomal recessive |
| RS2135799043 | Health Risk | Pathogenic | — |
| RS2135799143 | Health Risk | Pathogenic | — |
| RS2135804929 | Health Risk | Pathogenic | Usher syndrome type 1, Usher syndrome type 1 |
| RS2496360223 | Health Risk | Pathogenic | — |
| RS2496487970 | Health Risk | Pathogenic | Usher syndrome, Usher syndrome |
| RS2496573317 | Health Risk | Pathogenic | — |
| RS2496573397 | Health Risk | Pathogenic | See cases, See cases |
| RS2496573808 | Health Risk | Pathogenic | — |
| RS2496576381 | Health Risk | Pathogenic | — |
| RS2496578248 | Health Risk | Pathogenic | — |
| RS2496578563 | Health Risk | Pathogenic | — |
| RS2496728342 | Health Risk | Pathogenic | — |
| RS2496729081 | Health Risk | Pathogenic | — |
| RS2496731085 | Health Risk | Pathogenic | — |
| RS2496744582 | Health Risk | Pathogenic | Retinitis pigmentosa, Usher syndrome type 1B, Retinitis pigmentosa |
| RS2496744948 | Health Risk | Pathogenic | — |
| RS2496748689 | Health Risk | Pathogenic | — |
| RS2496750905 | Health Risk | Pathogenic | — |