CP Chromosome 3

Ceruloplasmin
107 variants 107 Health Risk

Upload your DNA to see your personal genotypes for variants in CP.

What This Gene Does
The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
Multicopper ferroxidase family
Locus Type
gene with protein product
Location
3q24-q25.1
Ensembl
ENSG00000047457
Associated Conditions (9)
Deficiency of ferroxidase
Hypoceruloplasminemia
CP-related disorder
Inborn genetic diseases
Familial cancer of breast
Gastric cancer
Colorectal cancer
Cervical cancer
Neurodegeneration with brain iron accumulation
Key Variants
RS1064797073
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
RS138646392
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
RS139633388
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Hypoceruloplasminemia, CP-related disorder
Health Risk
RS142503847
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
Health Risk
RS144401501
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, CP-related disorder
Health Risk
RS145481253
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
Health Risk
RS147034302
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, Familial cancer of breast
Health Risk
RS148041351
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
Health Risk
RS149790356
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
RS150303869
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
Health Risk
RS150733154
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
Health Risk
RS151304828
Conflicting classifications of pathogenicity
Deficiency of ferroxidase, Deficiency of ferroxidase
Health Risk
All Variants (107)
RSID Category Clinical Significance Conditions
RS1064797073 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS138646392 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS139633388 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Hypoceruloplasminemia, CP-related disorder
RS142503847 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS144401501 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, CP-related disorder
RS145481253 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
RS147034302 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, Familial cancer of breast
RS148041351 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
RS149790356 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS150303869 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS150733154 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS151304828 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS151311306 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS17847022 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS189155564 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS199877380 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS200683433 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS200933607 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
RS201521886 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS202217551 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS2472844885 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS34386552 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, CP-related disorder
RS34987997 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS35331711 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS370682704 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS375191868 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Gastric cancer, Colorectal cancer
RS529607771 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Inborn genetic diseases
RS541708867 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS553883583 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS563241895 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
RS747305045 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS749646388 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS759185877 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS760634973 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS768492670 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases, Deficiency of ferroxidase
RS781672409 Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, CP-related disorder, Deficiency of ferroxidase
RS1361931808 Health Risk Likely pathogenic CP-related disorder, CP-related disorder
RS1553765380 Health Risk Likely pathogenic —
RS1725520104 Health Risk Likely pathogenic —
RS2472761454 Health Risk Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS2472840199 Health Risk Likely pathogenic CP-related disorder, CP-related disorder
RS386134126 Health Risk Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS386134127 Health Risk Likely pathogenic Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation, Deficiency of ferroxidase
RS386134141 Health Risk Likely pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase, Deficiency of ferroxidase
RS587780321 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation, Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation
RS750451693 Health Risk Likely pathogenic Inborn genetic diseases, Deficiency of ferroxidase, Neurodegeneration with brain iron accumulation
RS767161351 Health Risk Likely pathogenic —
RS1057518247 Health Risk Pathogenic —
RS121909579 Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS1257565717 Health Risk Pathogenic CP-related disorder, Deficiency of ferroxidase, CP-related disorder
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