NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg) AND Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000018287.29
Allele description [Variation Report for NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)]
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)
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
-
Homo sapiens homeostatic iron regulator (HFE), RefSeqGene (LRG_748) on chromosom...
Homo sapiens homeostatic iron regulator (HFE), RefSeqGene (LRG_748) on chromosome 6gi|526253097|ref|NG_008720.2||gnl|L G_748Nucleotide
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See more...Assertion and evidence details
Last Updated: Jan 7, 2023