GRIN1 - Gene browser

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

HCNC Approved Symbol: GRIN1 (HGNC:4584)
Genomic Coordinates: 9:137,139,154 - 137,168,756 (9q34.3)
Synonyms: GluN1, NR1, NMDAR1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the GRIN1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

013
Patient count

Global developmental delay: 6 (46.2%)
Patient Count: 6 (46.2%)
% of total patients presenting each phenotype is shown in parentheses.
6 (46.2%)
Hypotonia: 5 (38.5%)
Patient Count: 5 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
5 (38.5%)
Intellectual disability: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Microcephaly: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Encephalopathy: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)