ID   GM14890
AC   CVCL_4J59
DR   CLO; CLO_0032078
DR   Coriell; GM14890
DR   Wikidata; Q54847506
CC   Sequence variation: Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Ser106Cys (c.317C>G); ClinVar=VCV000242797; Zygosity=Hemizygous (Coriell=GM14890).
CC   Sequence variation: Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Arg182Trp (c.544C>T); ClinVar=VCV000242750; Zygosity=Hemizygous (Coriell=GM14890).
CC   Sequence variation: Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Arg198Cys (c.592C>T); ClinVar=VCV000010391; Zygosity=Hemizygous (Coriell=GM14890).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98933; Glucose-6-phosphate dehydrogenase deficiency
DI   ORDO; Orphanet_466026; Class I glucose-6-phosphate dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
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