Orphanet: SWISNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
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SMARCB1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

  • Synonym(s) : BAF47, hSNFS, Ini1, integrase interactor 1, malignant rhabdoid tumor suppressor, PPP1R144, protein phosphatase 1, regulatory subunit 144, RDT, Sfh1p, SNF5, Snr1, sucrose nonfermenting, yeast, homolog-like 1
  • Previous symbols and names : SNF5L1
  • Type : gene with protein product
  • Chromosomal location : 22q11.23
  • OMIM: 601607
  • HGNC: 11103
  • UniProtKB: Q12824
  • Genatlas: SMARCB1
  • Ensembl: ENSG00000099956
  • IUPHAR-DB: -
  • Reactome: Q12824
  • LOVD: SMARCB1

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


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