RS28934906 MECP2
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What This Variant Does
"rs28934906, also known as c.473C>
Associated Conditions
Rett syndrome
Autism
susceptibility to
X-linked 3
Angelman syndrome
Severe neonatal-onset encephalopathy with microcephaly
Inborn genetic diseases
X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Lubs type
Abnormality of the nervous system
Neurodevelopmental delay
MECP2-related disorder
Severe neonatal-onset encephalopathy with microcephaly
Thyroid cancer
nonmedullary
Other Variants in MECP2