RS137852972 BSCL2;HNRNPUL2-BSCL2
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What This Variant Does
"[OMIM:?]
Associated Conditions
Neuronopathy
distal hereditary motor
type 5A
Hereditary spastic paraplegia 17
Charcot-Marie-Tooth disease type 2
type 5C
Peripheral neuropathy
Inborn genetic diseases
Hereditary spastic paraplegia
Berardinelli-Seip congenital lipodystrophy
Neuronopathy
distal hereditary motor
type 5A
Hereditary spastic paraplegia 17
Charcot-Marie-Tooth disease type 2
Other Variants in BSCL2;HNRNPUL2-BSCL2