Variant: rs121918101 

    present in Gene: INS;INS-IGF2
    present in Chromosome: 11
    Position on Chromosome: 2160872
    Alleles of this Variant: G/C

rs121918101 in INS;INS-IGF2 gene and Hyperproinsulinemia PMID 1601997 1992 A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).

PMID 3470784 1987 A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.

PMID 4019786 1985 Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.

PMID 2196279 1990 Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.