Variant: rs1556038028 

    present in Gene: NHS
    present in Chromosome: X
    Position on Chromosome: 17724421
    Alleles of this Variant: C/T

rs1556038028 in NHS gene and Multiple congenital anomalies PMID 19414485 2009 X-linked cataract and Nance-Horan syndrome are allelic disorders.

PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

PMID 22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PMID 16736028 2006 New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

PMID 11836358 2002 A locus for isolated cataract on human Xp.

PMID 21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.