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On this page, you will find information about a genetic change that was identified in a UDN participant.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 12 with overgrowth and developmental delay (read full description).
Nov 13, 2017
GNAS complex locus
The GNAS gene codes for an alpha subunit of the guanine nucleotide-binding protein (G protein) (MedlinePlus Genetics).
A change in the GNAS gene was identified in a UDN participant. The participant, a 12-year-old male with overgrowth, developmental delay, and behavior problems was found to carry the following genetic change in the GNAS gene: c.1235C>T / p.P412L.
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