NM_000096.4(CP):c.2811A>G (p.Thr937=) AND Deficiency of ferroxidase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003516691.1
Allele description [Variation Report for NM_000096.4(CP):c.2811A>G (p.Thr937=)]
NM_000096.4(CP):c.2811A>G (p.Thr937=)
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
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PREDICTED: Mus musculus serine/threonine kinase 38 like (Stk38l), transcript var...
PREDICTED: Mus musculus serine/threonine kinase 38 like (Stk38l), transcript variant X6, mRNAgi|1907172321|ref|XM_006507031.3|Nucleotide
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Last Updated: Mar 23, 2024