NM_000096.4(CP):c.2446G>A (p.Val816Ile) AND Deficiency of ferroxidase
- Germline classification:
- Uncertain significance (2 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:
- RCV000823661.9
Allele description [Variation Report for NM_000096.4(CP):c.2446G>A (p.Val816Ile)]
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
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
-
Ifnar2 (2)
MedGen
-
KIAA0101, partial [Homo sapiens]
KIAA0101, partial [Homo sapiens]gi|365753380|gb|AEW89494.1|Protein
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Last Updated: Aug 25, 2024