NM_000320.3(QDPR):c.485A>G (p.Gln162Arg) AND Dihydropteridine reductase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003020789.2
Allele description [Variation Report for NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)]
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)
Condition(s)
- Name:
- Dihydropteridine reductase deficiency (HPABH4C)
- Synonyms:
- HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY; Quinoid dihydropteridine reductase deficiency; Phenylketonuria II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009862; MedGen: C0268465; Orphanet: 226; Orphanet: 238583; OMIM: 261630
-
ABC-type oligopeptide transporter ABCB9 isoform 5 [Homo sapiens]
ABC-type oligopeptide transporter ABCB9 isoform 5 [Homo sapiens]gi|339895787|ref|NP_001229943.1|Protein
-
BEN domain-containing protein 2 isoform 1 [Homo sapiens]
BEN domain-containing protein 2 isoform 1 [Homo sapiens]gi|193794843|ref|NP_699177.2|Protein
-
Homo sapiens cDNA clone IMAGE:6501134, partial cds
Homo sapiens cDNA clone IMAGE:6501134, partial cdsgi|49117509|gb|BC073144.1|Nucleotide
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Last Updated: Feb 20, 2024