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GRIN1

Synonyms
GluN1, MRD8, NDHMSD, NDHMSR, NMD-R1, NMDA1, NMDAR1, NR1
External resources
Summary
The protein encoded by this gene is a critical subunit of N-methyl-D-aspartate receptors, members of the glutamate receptor channel superfamily which are heteromeric protein complexes with multiple subunits arranged to form a ligand-gated ion channel. These subunits play a key role in the plasticity of synapses, which is believed to underlie memory and learning. Cell-specific factors are thought to control expression of different isoforms, possibly contributing to the functional diversity of the subunits. Alternatively spliced transcript variants have been described.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
1
VUS
35,966
Likely benign
1,405
Benign
1,349

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on GRIN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.7%
Abnormality of the musculoskeletal system
40%
Abnormality of head or neck
26.7%
Abnormality of the cardiovascular system
26.7%
Abnormality of the eye
26.7%
Growth abnormality
20%
Abnormality of the genitourinary system
13.3%
Abnormality of the integument
13.3%
Abnormality of the ear
6.7%
Abnormality of the respiratory system
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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