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GNAS

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).

Date of Report

Nov 13, 2017

Full Name

GNAS complex locus

Location
Chromosome 20 (20q13.32)
Chr20.57429742.png

Function

The GNAS gene codes for an alpha subunit of the guanine nucleotide-binding protein (G protein) (MedlinePlus Genetics).

Database Links

GeneCards: GC20P058839

MedlinePlus Genetics: GNAS

NCBI Gene: 2778

OMIM: 139320

UniProtKB/Swiss-Prot: Q5JWF2

Clinical Significance

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.

Gene GNAS
Inheritance Pattern Autosomal dominant/imprinting
Position Chr20: 57429742
Transcript NM_001077490
DNA Change c.1235C>T
Protein Change p.P412L
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