Variant: rs397517994 

    present in Gene: USH2A
    present in Chromosome: 1
    Position on Chromosome: 215640615
    Alleles of this Variant: G/A

rs397517994 in USH2A gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs397517994 in USH2A gene and RETINITIS PIGMENTOSA 39 (disorder) PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

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

rs397517994 in USH2A gene and USHER SYNDROME, TYPE IIA PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

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