GRIN2B - Gene browser

GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

HCNC Approved Symbol: GRIN2B (HGNC:4586)
Genomic Coordinates: 12:13,537,337 - 13,982,134 (12p13.1)
Synonyms: GluN2B, NR2B, NMDAR2B
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

23Patients

In total, 23 patients were diagnosed with a variant in the GRIN2B gene.

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

023
Patient count

Global developmental delay: 10 (43.5%)
Patient Count: 10 (43.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (43.5%)
Hypotonia: 6 (26.1%)
Patient Count: 6 (26.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (26.1%)
Microcephaly: 5 (21.7%)
Patient Count: 5 (21.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (21.7%)
Generalized hypotonia: 3 (13.0%)
Patient Count: 3 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.0%)
Global development delay: 3 (13.0%)
Patient Count: 3 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.0%)