RS137852971 BSCL2
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What This Variant Does
"rs137852971, also known as c.826G>
Associated Conditions
Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Berardinelli-Seip congenital lipodystrophy
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy
distal hereditary motor
type 5C
Hereditary spastic paraplegia 17
Congenital generalized lipodystrophy type 2
Charcot-Marie-Tooth disease type 2
Berardinelli-Seip congenital lipodystrophy
Severe neurodegenerative syndrome with lipodystrophy
Neuronopathy
distal hereditary motor
type 5C
Other Variants in BSCL2