ID   GM27412
AC   CVCL_XC48
DR   Coriell; GM27412
DR   Wikidata; Q93933228
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Arg497Ter (c.1489C>T); ClinVar=VCV000210050; Zygosity=Heterozygous (Coriell=GM27412).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C163754; Mental retardation, autosomal dominant 40
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XC49 ! GM27353
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
//