Variant: rs267607209 

    present in Gene: LARGE1
    present in Chromosome: 22
    Position on Chromosome: 33304476
    Alleles of this Variant: A/G

rs267607209 in LARGE1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 PMID 19067344 2008 Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PMID 24709677 2014 Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.