Variant: rs745744124 

    present in Gene: B4GALNT1
    present in Chromosome: 12
    Position on Chromosome: 57631320
    Alleles of this Variant: C/-;CC

rs745744124 in B4GALNT1 gene and Dysmorphic features PMID 24103911 2013 Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

PMID 24283893 2014 Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia.

PMID 23746551 2013 Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.