Variant: rs483353055 

    present in Gene: USH2A;LOC105372918
    present in Chromosome: 1
    Position on Chromosome: 216200031
    Alleles of this Variant: C/T

rs483353055 in USH2A;LOC105372918 gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs483353055 in USH2A;LOC105372918 gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 25991456 2015 DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

rs483353055 in USH2A;LOC105372918 gene and USHER SYNDROME, TYPE IIA PMID 27460420 2016 An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 25991456 2015 DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

PMID 28512305 2017 Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.