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.