NM_000317.3(PTS):c.244-8G>C AND 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003598233.2
Allele description [Variation Report for NM_000317.3(PTS):c.244-8G>C]
NM_000317.3(PTS):c.244-8G>C
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
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Homo sapiens translocase of inner mitochondrial membrane 17A (TIMM17A), mRNA
Homo sapiens translocase of inner mitochondrial membrane 17A (TIMM17A), mRNAgi|208610007|ref|NM_006335.2|Nucleotide
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Homo sapiens sushi domain containing 4, mRNA (cDNA clone MGC:11193 IMAGE:3926397...
Homo sapiens sushi domain containing 4, mRNA (cDNA clone MGC:11193 IMAGE:3926397), complete cdsgi|33871233|gb|BC004888.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024