RS267606960 POMGNT1

Health Risk Chr 1:46192168
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What This Variant Does
"CLNSIG=5
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A3
POMGNT1-related disorder
Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B3
Muscle eye brain disease
Autosomal recessive limb-girdle muscular dystrophy type 2O
Retinitis pigmentosa 76
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Other Variants in POMGNT1
rs587777821 rs193919335 rs386834017 rs28942068 rs28940869 rs193919336 rs193919337 rs587777822 rs267606961 rs74374973
Ask Dr. Hemsworth about this variant