RS145226920 IGHMBP2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Neurodevelopmental disorder
Inborn genetic diseases
IGHMBP2-related disorder
Autosomal recessive distal spinal muscular atrophy 1
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease
Neurodevelopmental disorder
Inborn genetic diseases
IGHMBP2-related disorder
Other Variants in IGHMBP2