RS200198778 POMT2

Health Risk Chr 14:77278764
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What This Variant Does
"CLNSIG=255
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B2
Muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A2
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B2
Muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2N
POMT2-related disorder
Other Variants in POMT2
rs119463989 rs533916138 rs587777815 rs267606969 rs267606963 rs267606964 rs190285831 rs267606965 rs267606966 rs267606971
Ask Dr. Hemsworth about this variant