SMARCA2 - Gene browser

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

HCNC Approved Symbol: SMARCA2 (HGNC:11098)
Genomic Coordinates: 9:2,015,347 - 2,193,624 (9p24.3)
Synonyms: BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2, SNF2L2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the SMARCA2 gene.

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

012
Patient count

Microcephaly: 5 (41.7%)
Patient Count: 5 (41.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (41.7%)
Developmental delay: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Epilepsy: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Facial dysmorphism: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Low set ears: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)