NM_000317.3(PTS):c.289G>A (p.Val97Met) AND 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000670843.1
Allele description [Variation Report for NM_000317.3(PTS):c.289G>A (p.Val97Met)]
NM_000317.3(PTS):c.289G>A (p.Val97Met)
Condition(s)
- Name:
- 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- Synonyms:
- HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTS DEFICIENCY; 6-pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalanemia, BH4-deficient, A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009863; MedGen: C0878676; Orphanet: 13; Orphanet: 238583; OMIM: 261640
Assertion and evidence details
Last Updated: Feb 4, 2024