MYO15A, myosin XVA, 51168

N. diseases: 26; N. variants: 77
Disease: Profound sensorineural hearing loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848641
Disease: Profound sensorineural hearing loss
Profound sensorineural hearing loss 		0.010 GeneticVariation disease BEFREE Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. 26242193 2015