Variant: rs1057519463 

    present in Gene: HEXA
    present in Chromosome: 15
    Position on Chromosome: 72349160
    Alleles of this Variant: GAACTCAT/-

rs1057519463 in HEXA gene and Cherry red spot of the macula PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

rs1057519463 in HEXA gene and Developmental regression PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

rs1057519463 in HEXA gene and Low Vision PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

rs1057519463 in HEXA gene and Muscle hypotonia PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

rs1057519463 in HEXA gene and Seizures PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

rs1057519463 in HEXA gene and Tay-Sachs Disease PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.