Full data view for gene CEP290

This database is one of the "Eye disease" gene variant databases.b>NOTE: most of the data displayed derive from the CEP290 gene variant database and link directly to their original source.
Information The variants shown are described using the NM_025114.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Parent #1 - likely pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Kroes 2016 - rs137852834 Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 2-45 Pat12 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+/. 36 c.4723A>T r.(?) p.(Lys1575*) Unknown - pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 16 Johan den Dunnen
+/. 36 c.4723A>T r.(?) p.(Lys1575*) Unknown - pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - OMIM:var0007 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. 36 c.4723A>T r.[4723a>u, 4705_4812del] p.[Lys1575*, Glu1569_Trp1604del] Maternal (confirmed) - pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 partial skipping of exon 36 PubMed: Roosing 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES + Sanger validation trichromacy 28829391-FamPat1 PubMed: Roosing 2017 family, two affected siblings, hetorozygous carrier parents F ? Netherlands white - - yes none 2 Susanne Roosing
+/. 36 c.4723A>T r.[4723a>u, 4705_4812del] p.[Lys1575*, Glu1569_Trp1604del] Maternal (confirmed) - pathogenic g.88524986G>A g.88083936T>A - - CEP290_000070 partial skipping of exon 36 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Roosing 2017 - - Germline yes - - - - DNA, RNA SEQ-NG - WES + Sanger validation trichromacy 28829391-FamPat2 PubMed: Roosing 2017 sibling M no Netherlands white - - - none 1 Susanne Roosing
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Unknown - pathogenic g.88477713T>A g.88083936T>A CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*, p.(Lys1575Ter)) - CEP290_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Unknown - pathogenic g.88477713T>A g.88083936T>A CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*, p.(Lys1575Ter)) - CEP290_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Unknown - pathogenic g.88477713T>A g.88083936T>A CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*, p.(Lys1575Ter)) - CEP290_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Unknown - pathogenic g.88477713T>A g.88083936T>A CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*, p.(Lys1575Ter)) - CEP290_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Unknown - pathogenic g.88477713T>A g.88083936T>A CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*, p.(Lys1575Ter)) - CEP290_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #1 - likely pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 404 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #1 - likely pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 405 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #2 - likely pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 430 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #2 - likely pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/11 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Unknown - likely pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13010893 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Unknown - likely pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13005926 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #1 - likely pathogenic (recessive) g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RCD500 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575*) Parent #1 - pathogenic g.88477713T>A g.88083936T>A NM_025114.3:c.4723A>T - CEP290_000070 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW029-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575*) Parent #1 - pathogenic g.88477713T>A g.88083936T>A NM_025114.3:c.4723A>T - CEP290_000070 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW280-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575*) Parent #2 - pathogenic g.88477713T>A g.88083936T>A NM_025114.3:c.4723A>T - CEP290_000070 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW211-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Unknown - likely pathogenic g.88477713T>A g.88083936T>A c.4723A>T; p.K1575* - CEP290_000070 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 552 PubMed: Brooks 2018 family 39 M - United States - - - - - 1 LOVD
+/. 36 c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - pathogenic g.88477713T>A - c.4723A>T - CEP290_000070 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 36 c.4723A>T r.(?) p.(Lys1575*) Unknown - pathogenic g.88477713T>A - c.4723A>T - CEP290_000070 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+?/. - c.4723A>T r.(?) p.(Lys1575*) Unknown - likely pathogenic g.88477713T>A g.88083936T>A CEP290;NM_025114.3;c.[4723A>T];[6277del];p.[(Lys1575*)];[(Val2093Serfs*4)] - CEP290_000070 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 45 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 36 c.4723A>T r.(?) p.(Lys1575*) Unknown - pathogenic g.88477713T>A - c.4723A>T - CEP290_000070 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 552 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Unknown - likely pathogenic g.88477713T>A - c. 4723A>T - CEP290_000070 - PubMed: Booij-2011 - - Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575*) Unknown ACMG pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T; p.Lys1575Ter - CEP290_000070 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 7 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575*) Unknown ACMG pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T; p.Lys1575Ter - CEP290_000070 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 7 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575*) Unknown ACMG pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T; p.Lys1575Ter - CEP290_000070 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 8 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575*) Unknown ACMG pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T; p.Lys1575Ter - CEP290_000070 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 134 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X - CEP290_000070 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ, microsat blood - retinal disease 258 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X - CEP290_000070 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ, microsat blood - retinal disease 848 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X - CEP290_000070 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ, microsat blood - retinal disease LEP PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Parent #2 - likely pathogenic g.88477713T>A g.88083936T>A CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.1709C>G, p.Ser570X - CEP290_000070 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ, microsat blood - retinal disease 809 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X - CEP290_000070 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ, microsat blood - retinal disease 738 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X - CEP290_000070 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ, microsat blood - retinal disease 623 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 allele 1: c.4723A>T, p.Lys1575X; allele 2: c.4723A>T, p.Lys1575X - CEP290_000070 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ, microsat blood - retinal disease 419 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 36 c.4723A>T r.(?) p.(Lys1575*) Parent #2 - likely pathogenic g.88477713T>A g.88083936T>A 4723A>T, K1575X - CEP290_000070 compound heterozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease COR031 PubMed: Brancati 2007 - F yes Belgium - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A/T, p.Lys1575X - CEP290_000070 - PubMed: Papon 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Papon 2010 - M - France - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Both (homozygous) - likely pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A/T, p.Lys1575X - CEP290_000070 - PubMed: Papon 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 3 PubMed: Papon 2010 - M - France - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #1 - likely pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T, p.(Lys1575*) - CEP290_000070 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 7 PubMed: Sheck 2018 family 19073, individual 7 - - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #1 - likely pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T, p.(Lys1575*) - CEP290_000070 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 10 PubMed: Sheck 2018 family 18259, individual 10 - - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #1 - likely pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T, p.(Lys1575*) - CEP290_000070 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 13 PubMed: Sheck 2018 family 17341, individual 13 - - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #2 - likely pathogenic g.88477713T>A g.88083936T>A c.4723A>T, p.(Lys1575*) - CEP290_000070 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 19 PubMed: Sheck 2018 family 18444, individual 19 - - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Unknown - likely pathogenic g.88477713T>A g.88083936T>A c.2991+1655A>G/c.4723A>T, p.C998*/p.K1575* - CEP290_000070 heterozygous PubMed: Feldhaus 2020 - - Unknown ? - - - - DNA SEQ-NG, SEQ blood 11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>, G, and 1 patient by targeted IRD panel analysis retinal disease CEP290_18 PubMed: Feldhaus 2020 - M - - - - - - - 1 LOVD
+?/. - c.4723A>T r.(?) p.(Lys1575*) Parent #2 - likely pathogenic g.88477713T>A g.88083936T>A CEP290 c.4723A>T, p.K1575X - CEP290_000070 heterozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P13 PubMed: Cideciyan 2011 - M - - - - - - - 1 LOVD
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Both (homozygous) - pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Midgley 2024 - rs137852834 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat13 PubMed: Midgley 2024 - M - South Africa white - - - - 1 Johan den Dunnen
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #1 - pathogenic g.88477713T>A g.88083936T>A - - CEP290_000070 - PubMed: Midgley 2024 - rs137852834 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat59 PubMed: Midgley 2024 - M - South Africa mixed - - - - 1 Johan den Dunnen
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #2 - pathogenic (recessive) g.88477713T>A g.88083936T>A - - CEP290_000070 hypomorphic variant PubMed: Valkenburg 2018 - - Germline - - - - - DNA SEQ - - LCA Pat16;10026 PubMed: Valkenburg 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #2 - pathogenic (recessive) g.88477713T>A g.88083936T>A - - CEP290_000070 hypomorphic variant PubMed: Coppieters 2010, PubMed: Valkenburg 2018 - - Germline - - - - - DNA SEQ - - LCA ?;10043 PubMed: Coppieters 2010, PubMed: Valkenburg 2018 - - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #2 - pathogenic (recessive) g.88477713T>A g.88083936T>A - - CEP290_000070 hypomorphic variant PubMed: Coppieters 2010, PubMed: Valkenburg 2018 - - Germline - - - - - DNA SEQ - - LCA ?;10045 PubMed: Coppieters 2010, PubMed: Valkenburg 2018 - - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #2 - pathogenic (recessive) g.88477713T>A g.88083936T>A - - CEP290_000070 hypomorphic variant PubMed: Valkenburg 2018 - - Germline - - - - - DNA SEQ - - LCA 10056 PubMed: Valkenburg 2018 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.4723A>T r.(?) p.(Lys1575Ter) Parent #2 - pathogenic (recessive) g.88477713T>A g.88083936T>A - - CEP290_000070 hypomorphic variant PubMed: Valkenburg 2018 - - Germline - - - - - DNA SEQ - - LCA 10066 PubMed: Valkenburg 2018 - - - Germany - - - - - 1 Johan den Dunnen
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