RS119462982 POMT1

Health Risk Chr 9:131509800 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Abnormality of the nervous system
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Abnormality of the nervous system
Autosomal recessive limb-girdle muscular dystrophy
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
Population Frequencies
gnomAD ALL
100%
Other Variants in POMT1
rs28941782 rs119462981 rs587777817 rs587777818 rs119462983 rs119462985 rs119462986 rs119462987 rs1051679985 rs587777819
Ask Dr. Hemsworth about this variant