Variant: rs104894673 

    present in Gene: CRX
    present in Chromosome: 19
    Position on Chromosome: 47839335
    Alleles of this Variant: C/T

rs104894673 in CRX gene and LEBER CONGENITAL AMAUROSIS 7 PMID 21602930 2011 Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

PMID 9792858 1998 A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

PMID 10887186 2000 The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation.

PMID 9931337 1999 Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

PMID 20513135 2010 Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.