ID   CG1149
AC   CVCL_LG65
SY   CG 1149
DR   BCRC; 08C0024
DR   Wikidata; Q54811507
CC   Sequence variation: Mutation; HGNC; HGNC:9689; PTS; Simple; p.Asn52Ser (c.155A>G); ClinVar=VCV000000479; Zygosity=Heterozygous (BCRC=08C0024).
CC   Sequence variation: Mutation; HGNC; HGNC:9689; PTS; Simple; p.Pro87Ser (c.259C>T); ClinVar=VCV000000480; Zygosity=Heterozygous (BCRC=08C0024).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): BCRC=08C0024
ST   Amelogenin: X
ST   CSF1PO: 9,12
ST   D13S317: 8,12
ST   D16S539: 9,11
ST   D5S818: 10,12
ST   D7S820: 8,9
ST   TH01: 7,10
ST   TPOX: 9
ST   vWA: 19
DI   NCIt; C138171; Hyperphenylalaninemia, BH4-deficient A
DI   ORDO; Orphanet_13; 6-pyruvoyl-tetrahydropterin synthase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20D
CA   Transformed cell line
DT   Created: 15-11-17; Last updated: 19-12-24; Version: 13
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