NM_000140.5(FECH):c.892C>T (p.Arg298Ter) AND Increased erythrocyte protoporphyrin concentration
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002287821.1
Allele description [Variation Report for NM_000140.5(FECH):c.892C>T (p.Arg298Ter)]
NM_000140.5(FECH):c.892C>T (p.Arg298Ter)
Condition(s)
- Name:
- Increased erythrocyte protoporphyrin concentration
- Identifiers:
- MedGen: C4023007; Human Phenotype Ontology: HP:0012187
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Last Updated: Feb 20, 2024