ID GM28584 AC CVCL_D6Y3 DR Coriell; GM28584 CC Population: Bangladeshi. CC Sequence variation: Mutation; HGNC; HGNC:30032; PACS1; Simple; p.Arg203Trp (c.607C>T); ClinVar=VCV000039581; Zygosity=Heterozygous (Coriell=GM28584). CC Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C150555; Schuurs-Hoeijmakers syndrome DI ORDO; Orphanet_329224; Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_B0IA ! GM28206 OI CVCL_B0IB ! GM28210 SX Female AG 10Y CA Transformed cell line DT Created: 10-09-24; Last updated: 19-12-24; Version: 2 //