Variant: rs121913143 

    present in Gene: INSR
    present in Chromosome: 19
    Position on Chromosome: 7267871
    Alleles of this Variant: G/T

rs121913143 in INSR gene and Rabson-Mendenhall Syndrome PMID 12023989 2002 Genotype-phenotype correlation in inherited severe insulin resistance.

PMID 17201797 2007 Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

PMID 28765322 2017 Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

PMID 2365819 1990 In the patient with the Rabson-Mendenhall syndrome (patient RM-1), the missense mutation substituted lysine for Asn15 in the alpha-subunit.

PMID 2121734 1990 Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.

PMID 10443650 1999 Progressive decline in insulin levels in Rabson-Mendenhall syndrome.

PMID 8314008 1994 Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.