GRIN2A

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 female, age 4 with seizures and global developmental delay (read full description).

Date of Report

Jul 01, 2019

Full Name

glutamate ionotropic receptor NMDA type subunit 2A

Location

Chromosome 16 (16p13.2)

Function

The GRIN2A gene codes for the GluN2A protein, which is a subunit of the N-methyl-D-aspartate (NMDA) receptor. The NMDA receptor is a neurotransmitter-gated ion channel that plays a role in the functioning of synapses in the brain (Endele et al., 2010).

Database Links

GeneCards: GC16M009753

MedlinePlus Genetics: GRIN2A

NCBI Gene: 2903

OMIM: 138253

UniProtKB/Swiss-Prot: Q12879

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene GRIN2A

Inheritance Pattern Autosomal dominant

Position (hg19) Chr16:9858480

Transcript NM_000833

DNA Change c.2921A>G

Protein Change p.N974S

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