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
RS2471562057 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471562112 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471562154 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471573874 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471581983 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471585496 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS387907333 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS387907334 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS72659359 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS72659361 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS72659362 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS74315154 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS745763932 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS747496610 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS769484595 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS863225043 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS953081958 Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853936 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS137853944 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS1701306659 Health Risk Pathogenic/Likely pathogenic CRTAP-related disorder, Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS72659357 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta, Osteogenesis imperfecta type 7
RS752412772 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS760337365 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS768626850 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS768954904 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS972668240 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
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