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MYO7A - myosin VIIA
- Synonym(s) : NSRD2
- Previous symbols and names : DFNA11, DFNB2, USH1B, myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
- Type : gene with protein product
- Chromosomal location : 11q13.5
- OMIM: 276903
- HGNC: 7606
- UniProtKB: Q13402
- Genatlas: MYO7A
- Ensembl: ENSG00000137474
- IUPHAR-DB: -
- Reactome: Q13402
- LOVD: MYO7A
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635 
- Disease-causing germline mutation(s) in Autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90636 - Disease-causing germline mutation(s) in Usher syndrome type 2
ORPHA:231178 - Disease-causing germline mutation(s) (loss of function) in Usher syndrome type 1
ORPHA:231169
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
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