Variant: rs150736997 

    present in Gene: RXYLT1;RXYLT1-AS1
    present in Chromosome: 12
    Position on Chromosome: 63808776
    Alleles of this Variant: A/G

rs150736997 in RXYLT1;RXYLT1-AS1 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 PMID 23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

PMID 27212206 2016 TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

PMID 27733679 2016 The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.

PMID 27130732 2016 The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.

PMID 23519211 2013 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

rs150736997 in RXYLT1;RXYLT1-AS1 gene and Walker-Warburg congenital muscular dystrophy PMID 23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.