Variant: rs1207247951

present in Gene: USH1C present in Chromosome: 11 Position on Chromosome: 17517465 Alleles of this Variant: C/-

rs1207247951 in USH1C gene and Deafness, Autosomal Recessive 18 PMID 23251578 2012 Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

rs1207247951 in USH1C gene and USHER SYNDROME, TYPE IC PMID 23251578 2012 Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.