Variant: rs121434430 

    present in Gene: CUBN
    present in Chromosome: 10
    Position on Chromosome: 17041160
    Alleles of this Variant: G/A

rs121434430 in CUBN gene and Megaloblastic Anemia 1 PMID 10080186 1999 Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.

PMID 10887099 2000 Most Finnish patients with MGA1 carry the disease-specific P1297L mutation (FM1) in the IF-B(12) receptor, cubilin.