SMARCB1

Synonym(s): BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, SNF5L1

Locus: 22q11.23

Protein: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1

Disorder(s):

• Rhabdoid Tumor Predisposition Syndrome 1
• SMARCB1-Related Coffin-Siris Syndrome
• Schwannomatosis