SMARCC2 - Gene browser | 3billion

SMARCC2

SMARCC2

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

HCNC Approved Symbol: SMARCC2 (HGNC:11105)
Genomic Coordinates: 12:56,162,359 - 56,189,483 (12q13.2)
Synonyms: BAF170, Rsc8, CRACC2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the SMARCC2 gene.

Frequently observed phenotypes(Top 5 only)

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

02
Patient count

Autism spectrum disorders: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Intellectual disability: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Sparse, thin scalp hair: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)

Last updated: 2024-06-30

SMARCC2 - Gene browser | 3billion