Variant: rs121918027 

    present in Gene: PLG
    present in Chromosome: 6
    Position on Chromosome: 160738593
    Alleles of this Variant: G/A

rs121918027 in PLG gene and Plasminogen Deficiency, Type I PMID 10233898 1999 Compound-heterozygous mutations in the plasminogen gene predispose to the development of ligneous conjunctivitis.

PMID 9242524 1997 Homozygous mutations in the plasminogen gene of two unrelated girls with ligneous conjunctivitis.

PMID 1986355 1991 Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis.

PMID 9858247 1998 Plasminogen Kanagawa-I, a novel missense mutation, is caused by the amino acid substitution G732R.

PMID 6238949 1984 Plasminogens Tochigi II and Nagoya: two additional molecular defects with Ala-600----Thr replacement found in plasmin light chain variants.

PMID 6216475 1982 Plasminogen Tochigi: inactive plasmin resulting from replacement of alanine-600 by threonine in the active site.

PMID 8392398 1993 Congenital plasminogen deficiency caused by a Ser572 to Pro mutation.

PMID 1427790 1992 Plasminogen with type-I mutation is polymorphic in the Japanese population.