ID   GM28328
AC   CVCL_D6XJ
DR   Coriell; GM28328
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:19088; ASH1L; Simple; p.Ser1635Cysfs*18 (c.4902_4903del); ClinVar=VCV000962517; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28328).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C206522; Intellectual developmental disorder, autosomal dominant 52
DI   ORDO; Orphanet_178469; Autosomal dominant non-syndromic intellectual disability
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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