Variant: rs375668376 

    present in Gene: USH2A;LOC102723833
    present in Chromosome: 1
    Position on Chromosome: 216073292
    Alleles of this Variant: C/T

rs375668376 in USH2A;LOC102723833 gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

rs375668376 in USH2A;LOC102723833 gene and USHER SYNDROME, TYPE IIA PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

rs375668376 in USH2A;LOC102723833 gene and Usher Syndrome PMID 23737954 2013 Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

PMID 26338283 2015 Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

PMID 26310143 2015 Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.