Variant: rs121908103 

    present in Gene: MYO5B
    present in Chromosome: 18
    Position on Chromosome: 50036982
    Alleles of this Variant: A/C;G

rs121908103 in MYO5B gene and Microvillus inclusion disease PMID 18724368 2008 MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

PMID 20186687 2010 Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

PMID 24138727 2014 Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

PMID 19006234 2008 Navajo microvillous inclusion disease is due to a mutation in MYO5B.

PMID 24892806 2014 Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.

PMID 21206382 2011 Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.