On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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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

Chromosome 20 (20q13.32)


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

Database Links

GeneCards: GNAS

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

Inheritance Pattern Autosomal dominant
Position (hg19) chr20:g.57429742C>T
Transcript NM_001077490.1
DNA Change c.1235C>T
Protein Change p.Pro412Leu
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