ID   GM27901
AC   CVCL_A5MK
DR   Coriell; GM27901
DR   Wikidata; Q107115187
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11497; SYNGAP1; Simple; p.Arg1240Ter (c.3718C>T); ClinVar=VCV000225077; Zygosity=Heterozygous (Coriell=GM27901).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C178414; Mental retardation, autosomal dominant 5
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   3Y
CA   Transformed cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//