NM_000096.4(CP):c.2571C>T (p.Tyr857=) AND Deficiency of ferroxidase
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001085939.15
Allele description [Variation Report for NM_000096.4(CP):c.2571C>T (p.Tyr857=)]
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
Condition(s)
- Name:
- Deficiency of ferroxidase (ACEP)
- Synonyms:
- Aceruloplasminemia; Ceruloplasmin deficiency; Familial apoceruloplasmin deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011426; MedGen: C0878682; Orphanet: 48818; OMIM: 604290; Human Phenotype Ontology: HP:0025498
Assertion and evidence details
Last Updated: Apr 15, 2024