CEP290 Chromosome 12

Centrosomal protein 290
892 variants 892 Health Risk

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What This Gene Does
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
12q21.32
Ensembl
ENSG00000198707
Associated Conditions (61)
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Hepatocellular carcinoma
Inborn genetic diseases
CEP290-related disorder
Intellectual disability
Retinal dystrophy
Retinitis pigmentosa
Kidney disorder
CEP290-related ciliopathy
Joubert syndrome 1
Atypical hemolytic-uremic syndrome
+41 more conditions
Key Variants
RS1036812157
Conflicting classifications of pathogenicity
Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS11104729
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 14, Joubert syndrome 5, Leber congenital amaurosis 10
Health Risk
RS1159465602
Conflicting classifications of pathogenicity
Senior-Loken syndrome 6, Meckel syndrome, type 4
Health Risk
RS1165909730
Conflicting classifications of pathogenicity
Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS117370446
Conflicting classifications of pathogenicity
Meckel syndrome, type 4, Bardet-Biedl syndrome 14
Health Risk
RS117852025
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
Health Risk
RS11836796
Conflicting classifications of pathogenicity
Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS1200834763
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
Health Risk
RS1213124542
Conflicting classifications of pathogenicity
Retinal dystrophy, CEP290-related disorder, Retinal dystrophy
Health Risk
RS1301659851
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis
Health Risk
RS1330745435
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
Health Risk
RS1340148485
Conflicting classifications of pathogenicity
Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome
Health Risk
All Variants (892)
RSID Category Clinical Significance Conditions
RS1036812157 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome
RS11104729 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Joubert syndrome 5, Leber congenital amaurosis 10
RS1159465602 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Meckel syndrome, type 4
RS1165909730 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
RS117370446 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4, Bardet-Biedl syndrome 14
RS117852025 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS11836796 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
RS1200834763 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS1213124542 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, CEP290-related disorder, Retinal dystrophy
RS1301659851 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis
RS1330745435 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
RS1340148485 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome
RS1359522025 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
RS139415563 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4, Leber congenital amaurosis 10
RS139998038 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Meckel syndrome
RS1400483491 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
RS140236736 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS1424407266 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis
RS1425613490 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS1425716932 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS142742071 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Meckel syndrome
RS1431021703 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS143152287 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Meckel syndrome, type 4
RS1459958084 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Meckel syndrome, type 4
RS147362398 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
RS147371999 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4, Senior-Loken syndrome 6
RS1478489747 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS148446546 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6
RS150138016 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Joubert syndrome 5, Senior-Loken syndrome 6
RS150296134 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS181121175 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Bardet-Biedl syndrome 14, Meckel syndrome
RS181248369 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, Meckel-Gruber syndrome, Nephronophthisis
RS182369459 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome
RS182851622 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis
RS183655276 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Joubert syndrome 5, Senior-Loken syndrome 6
RS184018899 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis
RS184143186 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS184323010 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
RS186330724 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
RS188164241 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Joubert syndrome, Meckel-Gruber syndrome
RS189280108 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS189556433 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14
RS191613017 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
RS199583200 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
RS199747962 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14
RS199770158 Health Risk Conflicting classifications of pathogenicity CEP290-related ciliopathies, Joubert syndrome, Nephronophthisis
RS200063017 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 5, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10
RS200211587 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
RS200328638 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome
RS200454865 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
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