SMARCA4 - Gene browser

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

HCNC Approved Symbol: SMARCA4 (HGNC:11100)
Genomic Coordinates: 19:10,961,030 - 11,062,273 (19p13.2)
Synonyms: hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786, SNF2L4
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

14Patients

In total, 14 patients were diagnosed with a variant in the SMARCA4 gene.

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

014
Patient count

Global developmental delay: 5 (35.7%)
Patient Count: 5 (35.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (35.7%)
Cleft palate: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Low set ears: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Low-set ears: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)
Scoliosis: 2 (14.3%)
Patient Count: 2 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (14.3%)