rhabdoid tumor predisposition syndrome 2

Summary
Synonym
  • RTPS2
Definition
A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.
Super Class
rhabdoid tumor predisposition syndrome
Disease Ontology
DOID:0060997
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6597 SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51532 Transcription activator BRG1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025