Variant: rs121918060 

    present in Gene: HECTD3;UROD
    present in Chromosome: 1
    Position on Chromosome: 45013187
    Alleles of this Variant: C/T

rs121918060 in HECTD3;UROD gene and Porphyria Cutanea Tarda PMID 3775362 1986 Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.

PMID 21668429 2011 Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

PMID 8896428 1996 Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.

PMID 8644733 1996 Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

PMID 8176248 1994 Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

PMID 17240319 2007 Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).

PMID 15491440 2004 Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.

PMID 1905636 1991 Identification of a new mutation responsible for hepatoerythropoietic porphyria.

PMID 1634232 1992 Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.

PMID 12071824 2002 Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.