NM_000096.4(CP):c.1922C>T (p.Ser641Leu) AND Deficiency of ferroxidase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002018112.6
Allele description [Variation Report for NM_000096.4(CP):c.1922C>T (p.Ser641Leu)]
NM_000096.4(CP):c.1922C>T (p.Ser641Leu)
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: Sep 29, 2024