Variant: rs1289335417 

    present in Gene: POMT1
    present in Chromosome: 9
    Position on Chromosome: 131507400
    Alleles of this Variant: C/T

rs1289335417 in POMT1 gene and Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 PMID 15637732 2005 Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

PMID 16575835 2006 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

PMID 15037715 2004 POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

PMID 12369018 2002 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.