Properties

MORBIDMAP :NAME MM: Rhabdoid predisposition syndrome 1 :MORBID_ID 609322 :NUM 3 :SYM (SMARCB1 SNF5 INI1 RDT RTPS1 MRD15) :LOCUS 22q11.23 :OMIM_ID 601607 :SNP SCHWANNOMATOSIS; SMARCB1, GLN12TER; rs74315513 SCHWANNOMATOSIS, SOMATIC; SMARCB1, GLN182TER; rs121434496 :AAUSHIGENE SWI_SNF_RELATED_MATRIX_ASSOCIATED_ACTIN_DEPENDENT_REGULATOR_OF_CHROMATIN_SUBFAMILY_B_MEMBER_1