RS141138948 EXOSC3

Health Risk Chr 9:37783993
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What This Variant Does
"CLNSIG=255
Associated Conditions
Pontocerebellar hypoplasia type 1B
Inborn genetic diseases
Hypotonia
Abnormality of the nervous system
See cases
EXOSC3-related disorder
Congenital pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 1B
Inborn genetic diseases
Hypotonia
Abnormality of the nervous system
See cases
EXOSC3-related disorder
Congenital pontocerebellar hypoplasia type 1
Other Variants in EXOSC3
rs672601331 rs387907196 rs672601332 rs587780333 rs374550999 rs730882145 rs797045567 rs138169215 rs62640002 rs886041316
Ask Dr. Hemsworth about this variant