rs727503281
This variant is located in the MYH9 gene.
▶ClinVar annotation
not specified; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Autosomal dominant nonsyndromic hearing loss 17; MYH9-related disorder; not provided; Inborn genetic diseases
View on ClinVar →About MYH9
This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
View all MYH9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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