GNAS

 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.

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

Gene GNAS
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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