ID   GM27967
AC   CVCL_C7LH
DR   Coriell; GM27967
DR   Wikidata; Q117704359
CC   Sequence variation: Mutation; HGNC; HGNC:20311; CHAMP1; Simple; p.Ser181Cysfs*5 (c.542_543delCT); ClinVar=VCV000217909; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27967).
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_C7LG ! GM27963
SX   Female
AG   2Y
CA   Transformed cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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