NM_000281.4(PCBD1):c.205G>A (p.Val69Met) AND Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Germline classification:
- Uncertain significance (4 submissions)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415619.7
Allele description
NM_000281.4(PCBD1):c.205G>A (p.Val69Met)
Condition(s)
- Name:
- Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Synonyms:
- CADH DEFICIENCY; Hyperphenylalaninemia, BH4-deficient, D; Hyperphenylalaninemia due to dehydratase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009908; MedGen: C1849700; Orphanet: 238583; OMIM: 264070
-
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kinetochore-associated protein NSL1 homolog isoform 5 [Homo sapiens]
kinetochore-associated protein NSL1 homolog isoform 5 [Homo sapiens]gi|663071151|ref|NP_001284668.1|Protein
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BP676722 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus la...
BP676722 Osada Taira anterior neuroectoderm (ANE) pCS105 cDNA library Xenopus laevis cDNA clone XL422m01ex 5', mRNA sequencegi|46024677|gnl|dbEST|22926462|dbj| 722.1|Nucleotide
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Last Updated: Dec 24, 2023