Variant: rs137853137 

    present in Gene: CRB1
    present in Chromosome: 1
    Position on Chromosome: 197427726
    Alleles of this Variant: A/T

rs137853137 in CRB1 gene and LEBER CONGENITAL AMAUROSIS 8 PMID 20956273 2011 Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

PMID 11389483 2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

rs137853137 in CRB1 gene and RETINITIS PIGMENTOSA 12 (disorder) PMID 11389483 2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

PMID 22863181 2012 Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 20956273 2011 Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

rs137853137 in CRB1 gene and Retinal Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137853137 in CRB1 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.