Variant: rs116100695 

    present in Gene: PKLR
    present in Chromosome: 1
    Position on Chromosome: 155291918
    Alleles of this Variant: G/A

rs116100695 in PKLR gene and Deficiency of pyruvate kinase PMID 27871768 2017 Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.

PMID 26728349 2016 Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

PMID 9827908 1998 Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).

PMID 8483951 1993 Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

PMID 27346685 2016 Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

PMID 18759866 2009 Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.

PMID 11328279 2001 Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.

PMID 11054094 2000 A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.

PMID 28133914 2017 Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.

PMID 11960989 2002 Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.

rs116100695 in PKLR gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.