ID AG18374 AC CVCL_X819 DR CLO; CLO_0011724 DR Coriell; AG18374 DR Wikidata; Q54746783 CC Population: Caucasian. CC Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; c.1391-1G>A (g.2626G>A); ClinVar=VCV000006067; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG18374). CC Sequence variation: Mutation; HGNC; HGNC:9949; RECQL4; Simple; p.Cys525Alafs*33 (c.1573delT) (g.2886delT); ClinVar=VCV000006066; Zygosity=Heterozygous (Coriell=AG18374). CC Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C3335; Rothmund-Thomson syndrome DI ORDO; Orphanet_2909; Rothmund-Thomson syndrome OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_X820 ! AG18375 SX Male AG 22Y CA Transformed cell line DT Created: 05-09-14; Last updated: 19-12-24; Version: 16 //