ID   GM28873
AC   CVCL_D6XW
DR   Coriell; GM28873
CC   Population: Latino or Hispanic and Caribbean; Haitian.
CC   Sequence variation: Mutation; HGNC; HGNC:11497; SYNGAP1; Simple; p.Arg687Ter (c.2059C>T); ClinVar=VCV000411584; Zygosity=Heterozygous (Coriell=GM28873).
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   5Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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