SMARCB1 - Gene browser

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

HCNC Approved Symbol: SMARCB1 (HGNC:11103)
Genomic Coordinates: 22:23,786,966 - 23,838,009 (22q11.23)
Synonyms: BAF47, Ini1, INI-1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144, SNF5, SNF5L1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

4Patients

In total, 4 patients were diagnosed with a variant in the SMARCB1 gene.

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

04
Patient count

Neurofibromas: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Muscle weakness: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Spinal neurofibromas: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Dural ectasia: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Neurogenic bladder: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)