RS149682171 POMT1

Health Risk Chr 9:131522113
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What This Variant Does
"CLNSIG=5
Associated Conditions
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Autosomal recessive limb-girdle muscular dystrophy
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Autosomal recessive limb-girdle muscular dystrophy
Other Variants in POMT1
rs28941782 rs119462981 rs587777817 rs587777818 rs119462982 rs119462983 rs119462985 rs119462986 rs119462987 rs1051679985
Ask Dr. Hemsworth about this variant