CRTAP Chromosome 3

Cartilage associated protein
76 variants 76 Health Risk

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

What This Gene Does
The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Prolyl 3-hydroxylase family
Locus Type
gene with protein product
Location
3p22.3
Ensembl
ENSG00000170275
Associated Conditions (8)
Osteogenesis imperfecta type 7
Osteogenesis imperfecta
CRTAP-related disorder
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
Malignant tumor of urinary bladder
Inborn genetic diseases
Ovarian cancer
Key Variants
RS112423184
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
RS115198029
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
Health Risk
RS1170836959
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
RS137853943
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
Health Risk
RS1405064021
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
RS144486582
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
RS145048208
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
RS149119710
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
Health Risk
RS1701306755
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta type 7, Osteogenesis imperfecta
Health Risk
RS189698814
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
RS200397785
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
RS200576259
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
Health Risk
All Variants (76)
RSID Category Clinical Significance Conditions
RS112423184 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS115198029 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
RS1170836959 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853943 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
RS1405064021 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS144486582 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS145048208 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS149119710 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
RS1701306755 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type 7, Osteogenesis imperfecta
RS189698814 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS200397785 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS200576259 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS201564256 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS202118861 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta, Malignant tumor of urinary bladder
RS371017739 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
RS540998437 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta, CRTAP-related disorder
RS549296015 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS567359532 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS571617130 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS756961672 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS761750861 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS762039541 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS772038741 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS774680682 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS779447329 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Inborn genetic diseases, CRTAP-related disorder
RS1488345176 Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2029867406 Health Risk Likely pathogenic —
RS2125602711 Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471560813 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2471585421 Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471585529 Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS72659360 Health Risk Likely pathogenic Osteogenesis imperfecta type 7, CRTAP-related disorder, Osteogenesis imperfecta type 7
RS775037541 Health Risk Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1218625160 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853939 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta, Osteogenesis imperfecta type 7
RS137853940 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853941 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853946 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853947 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701306294 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701308701 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701318535 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701320767 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS201554363 Health Risk Pathogenic Osteogenesis imperfecta type 7, Ovarian cancer, Osteogenesis imperfecta type 7
RS2125596197 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2125603874 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471560599 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471560885 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471561228 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471561343 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
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