RS104894299 RAPSN

Health Risk Chr 11:47448078 snv missense variant
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What This Variant Does
"rs104894299, also known as c.264C&gt
Associated Conditions
Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Myopathy
Congenital myasthenic syndrome
Inborn genetic diseases
Fetal akinesia deformation sequence 2
RAPSN-related disorder
Congenital myasthenic syndrome 4C
Congenital myasthenic syndrome 11
Fetal akinesia deformation sequence 1
Myopathy
Congenital myasthenic syndrome
Inborn genetic diseases
Fetal akinesia deformation sequence 2
Population Frequencies
gnomAD ALL
0.2%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
99.7%
1kG EAS
100%
1kG EUR
99.6%
1kG SAS
100%
Other Variants in RAPSN
rs104894300 rs786200904 rs104894301 rs786200905 rs104894293 rs45547231 rs104894294 rs121909254 rs121909255 rs121909256
Ask Dr. Hemsworth about this variant