ID   CG1164
AC   CVCL_LG69
DR   BCRC; 60463
DR   Wikidata; Q54811511
CC   Sequence variation: Mutation; HGNC; HGNC:9689; PTS; Simple; p.Asn52Ser (c.155A>G); ClinVar=VCV000000479; Zygosity=Heterozygous (BCRC=60463).
CC   Sequence variation: Mutation; HGNC; HGNC:9689; PTS; Simple; p.Pro87Ser (c.259C>T); ClinVar=VCV000000480; Zygosity=Heterozygous (BCRC=60463).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C138171; Hyperphenylalaninemia, BH4-deficient A
DI   ORDO; Orphanet_13; 6-pyruvoyl-tetrahydropterin synthase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 12
//