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.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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+/. 40i c.5587-1G>C r.spl p.? Unknown - pathogenic g.88471122C>G g.88077345C>G - - CEP290_000133 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 5 Johan den Dunnen
+/. - c.5587-1G>C r.spl? p.? Unknown - pathogenic g.88471122C>G g.88077345C>G CEP290(NM_025114.4):c.5587-1G>C - CEP290_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 41 c.5587-1G>C r.spl p.? Parent #2 - pathogenic g.88471122C>G g.88077345C>G - - CEP290_000133 - - - - Germline yes - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - F - - - - - - - 2 Marta de Castro-MirĂ³
+?/. - c.5587-1G>C r.spl p.? Maternal (confirmed) - likely pathogenic (recessive) g.88471122C>G g.88077345C>G - - CEP290_000133 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam1576 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p.? Parent #1 - likely pathogenic g.88471122C>G g.88077345C>G IVS40-1G>C - CEP290_000133 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 9 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.5587-1G>C r.spl p.(?) Unknown ACMG pathogenic g.88471122C>G g.88077345C>G CEP290 c.1984C>T, p.(Gln662*), c.5587-1G>C, p.(?) - CEP290_000133 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 76 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p.(?) Parent #1 - likely pathogenic g.88471122C>G g.88077345C>G CEP290, variant 1: c.5587-1G>C/p.?, variant 2: c.3310-1_3310delinsAA/p.? - CEP290_000133 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 142 PubMed: Weisschuh 2020 Filing key number: 61, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p.(?) Parent #1 - likely pathogenic g.88471122C>G g.88077345C>G CEP290, variant 1: c.5587-1G>C/p.?, variant 2: c.3310-1_3310delinsAA/p.? - CEP290_000133 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 143 PubMed: Weisschuh 2020 Filing key number: 61, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.5587-1G>C r.(?) p.(?) Parent #1 - likely pathogenic g.88471122C>G g.88077345C>G CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5587-1G>C/p.? - CEP290_000133 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 257 PubMed: Weisschuh 2020 Filing key number: 87, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p.(?) Parent #1 - likely pathogenic g.88471122C>G g.88077345C>G CEP290, variant 1: c.5493del/p.A1832Pfs*19, variant 2: c.5587-1G>C/p.? - CEP290_000133 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 1151 PubMed: Weisschuh 2020 Filing key number: 817, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 40i c.5587-1G>C r.spl p.(?) Parent #2 - likely pathogenic g.88471122C>G g.88077345C>G CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5587-1G>C, ? - CEP290_000133 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 290 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 40i c.5587-1G>C r.spl p.(?) Parent #2 - likely pathogenic g.88471122C>G g.88077345C>G CEP290 allele 1: c.2991+1655A>G, p.Cys998X; allele 2: c.5587-1G>C, ? - CEP290_000133 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 695 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 40i c.5587-1G>C r.spl p.(?) Parent #1 - likely pathogenic g.88471122C>G g.88077345C>G CEP290 allele 1: c.5850delT, p.Phe1950LeufsX14; allele 2: c.5587-1G>C, ? - CEP290_000133 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 797 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. 40i c.5587-1G>C r.spl p.(?) Parent #2 - likely pathogenic g.88471122C>G g.88077345C>G CEP290 allele 1: c.1711+5G>A, Splice; allele 2: c.5587-1G>C, ? - CEP290_000133 - PubMed: Perrault 2007 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 543 PubMed: Perrault 2007 - - - France - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p.(?) Parent #2 - likely pathogenic g.88471122C>G g.88077345C>G CEP290 c.5587-1G/C - CEP290_000133 - PubMed: Papon 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 6 PubMed: Papon 2010 - M - France - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p.(?) Parent #2 - likely pathogenic g.88471122C>G g.88077345C>G CEP290 c.5587-1G/C - CEP290_000133 - PubMed: Papon 2010 - - Unknown ? - - - - DNA SEQ blood - retinal disease 7 PubMed: Papon 2010 - M - France - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p. (?) Unknown - likely pathogenic g.88471122C>G g.88077345C>G c.2991+1655A>G/c.5587-1G>C, p.C998*/p. ? - CEP290_000133 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_11 PubMed: Feldhaus 2020 - M - - - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p. (?) Parent #2 - likely pathogenic g.88471122C>G g.88077345C>G c.2991+1655A>G/c.5587-1G>C, p.Cys998*/p. ? - CEP290_000133 heterozygous PubMed: Feldhaus 2020 - - Germline yes - - - - 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_15 PubMed: Feldhaus 2020 - M - - - - - - - 1 LOVD
+?/. - c.5587-1G>C r.spl p. (?) Unknown - likely pathogenic g.88471122C>G g.88077345C>G c.5493delA/c.5587-1G>C, p.A1832Pfs*19/p.? - CEP290_000133 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_21 PubMed: Feldhaus 2020 - M - - - - - - - 1 LOVD
+/. - c.5587-1G>C r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.88471122C>G g.88077345C>G - - CEP290_000133 ACMG PM2, PVS1_STRONG, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1151 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.5587-1G>C r.spl p.? Unknown ACMG pathogenic (recessive) g.88471122C>G g.88077345C>G - - CEP290_000133 ACMG PM2, PVS1_STRONG, PP5_STRONG; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1274 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.5587-1G>C r.spl? p.? Unknown - pathogenic g.88471122C>G - CEP290(NM_025114.4):c.5587-1G>C - CEP290_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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