Variant: rs28941785 

    present in Gene: CTH
    present in Chromosome: 1
    Position on Chromosome: 70415987
    Alleles of this Variant: C/A;T

rs28941785 in CTH gene and Cystathioninuria PMID 18476726 2008 Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase.

PMID 12574942 2003 Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

PMID 20584029 2010 Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.

PMID 19428278 2009 Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.

PMID 19019829 2009 Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S.