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.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1657del r.(?) p.(Ile556Phefs*17) Parent #1 - pathogenic g.88512314del g.88118537del NM_025114.3:c.1666delA - CEP290_000030 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW013-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1657del r.(?) p.(Ile556Phefs*17) Parent #1 - pathogenic g.88512314del g.88118537del NM_025114.3:c.1666delA - CEP290_000030 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW013-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1657del r.(?) p.(Ile556Phefs*17) Both (homozygous) - pathogenic g.88512314del g.88118537del NM_025114.3:c.1666delA - CEP290_000030 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW240-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1657del r.(?) p.(Ile556Phefs*17) Both (homozygous) - pathogenic g.88512314del g.88118537del NM_025114.3:c.1666delA - CEP290_000030 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW303-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. 17 c.1666del r.(?) p.(Ile556Phefs*17) Unknown - pathogenic g.88512314del g.88118537del - - CEP290_000030 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.1666del r.(?) p.(Ile556PhefsTer17) Unknown - pathogenic g.88512314del g.88118537del CEP290(NM_025114.4):c.1666delA (p.I556Ffs*17) - CEP290_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.1666del r.(?) p.(Ile556Phefs*17) Both (homozygous) - pathogenic g.88512314del g.88118537del - - CEP290_000030 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - M yes Israel Beduin - - - - 1 Dror Sharon
+/. 16 c.1666del r.(?) p.(Ile556Phefs*17) Maternal (confirmed) - pathogenic g.88512314del g.88118537del - - CEP290_000030 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - F no Israel Arab-Muslim - - - - 1 Dror Sharon
+?/. 17 c.1666del r.(?) p.(Ile556Phefs*17) Unknown - pathogenic (recessive) g.88512314del g.88118537del 1666delA - CEP290_000030 - - - - Germline - - - - - DNA SEQ-NG Blood Targeted gene panel JBTS - - - - - - - - - - - 1 Jinu Han
+?/. 17 c.1666del r.(?) p.(Ile556Phefs*17) Maternal (confirmed) - pathogenic (recessive) g.88512314del g.88118537del 1666delA - CEP290_000030 - - - - Germline - - - - - DNA SEQ-NG Blood Targeted gene panel JBTS - - - - - - - - - - - 1 Jinu Han
+/. - c.1666del r.(?) p.(Ile556Phefs*17) Unknown ACMG pathogenic g.88512305del - - - CEP290_000030 - PubMed: Sharon 2019 - - Germline - 3/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 3 IRD families - - Israel - - - - - 3 Global Variome, with Curator vacancy
+?/. - c.1666del r.(?) p.(Ile556Phefs*17) Paternal (confirmed) - likely pathogenic (recessive) g.88512314del g.88118537del 1666delA - CEP290_000030 - PubMed: Rim 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat11 PubMed: Rim 2017 - F - Korea - - - - - 1 LOVD
+?/. - c.1666del r.(?) p.(Ile556Phefs*17) Parent #1 - likely pathogenic g.88512314del g.88118537del 1657delA - CEP290_000030 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 263 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. - c.1666del r.(?) p.(Ile556PhefsTer17) Parent #2 - pathogenic g.88512314del g.88118537del - - CEP290_000030 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 161 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. 17 c.1666del r.(?) p.(Ile556Phefs*17) Unknown - likely pathogenic g.88512305del - c.1666delA - CEP290_000030 Check also: Hollander 2006 PubMed: Avela 2019 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Avela 2019 - - - Finland Finnish - - - - 1 LOVD
+/. - c.1666del r.(?) p.(Ile556Phefs*17) Paternal (confirmed) ACMG pathogenic (recessive) g.88512314del g.88118537del c.1666del:p.(Ile556Phefs*17) - CEP290_000030 compound heterozygous PubMed: Surl 2020, PubMed: Moon 2021 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 4;Pat9 PubMed: Surl 2020, PubMed: Moon 2021 - F - Korea - - - - - 1 LOVD
+/. - c.1666del r.(?) p.(Ile556Phefs*17) Maternal (confirmed) ACMG pathogenic (recessive) g.88512314del g.88118537del c.1666del:p.(Ile556Phefs*17) - CEP290_000030 compound heterozygous PubMed: Surl 2020 - - Germline ? - - - - DNA SEQ-NG blood targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing retinal disease 6 PubMed: Surl 2020 - F - Korea - - - - - 1 LOVD
+/. - c.1666del r.(?) p.(Ile556Phefs*17) Unknown ACMG pathogenic g.88512314del g.88118537del CEP290 c.1666deIA; p.IIe556PhefsTer17 - CEP290_000030 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 10 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.1666del r.(?) p.(Ile556Phefs*17) Unknown ACMG pathogenic g.88512314del g.88118537del CEP290 c.1666deIA; p.IIe5S6PhefsTer17 - CEP290_000030 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
+/. - c.1666del r.(?) p.(Ile556Phefs*17) Unknown ACMG pathogenic g.88512314del g.88118537del CEP290 c.1666deIA; p.IIe556PhefsTer17 - CEP290_000030 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 135 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. 17 c.1666del r.(?) p.(Ile556Phefs*17) Both (homozygous) - pathogenic (recessive) g.88512305del - c.1666del - CEP290_000030 - PubMed: Colombo-2020 - rs727503855 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - F no - - - - - - 1 LOVD
+/. - c.1666del r.(?) p.(Ile556Phefs*17) Unknown ACMG pathogenic g.88512314del g.88118537del CEP290 c.1666del(;)6798G>A, V1: c.1666delA, (p.Ile556PhefsTer17) - CEP290_000030 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F106 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 17 c.1666del r.(?) p.(Ile556Phefs*17) Parent #1 - likely pathogenic g.88512314del g.88118537del 1657_1666delA, L552fsX572 - CEP290_000030 error in annotation, this change should be annotated as c.1666delA and not 1657_1666delA, protein change I556FfsX17 and not L552fsX572; compound heterozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease COR145 PubMed: Brancati 2007 - M no United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1666del r.spl p.(Ile556Phefs*17) Parent #1 - pathogenic g.88512314del g.88118537del c.1666del (p.Ile556Phefs*17) - CEP290_000030 basal exon skipping (BES) of Exon 18, providing mutant cells with the ability to escape protein truncation; homozygous PubMed: Barny 2018 - - Germline yes - - - - DNA ? - - retinal disease P1 PubMed: Barny 2018 Patient II: 2 (family 1) P1 F - - - - - - - 1 LOVD
+?/. - c.1666del r.(?) p.(Ile556Phefs*17) Parent #1 - likely pathogenic g.88512314del g.88118537del CEP290 c.1666delA - CEP290_000030 no protein annotation; heterozygous PubMed: Avela 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted gene analysis or a next-generation sequencing-based gene panel retinal disease 7 PubMed: Avela 2019 - ? - Finland - - - - - 1 LOVD
+/. 17 c.1666del r.(?) p.(Ile556Phefs*17) Both (homozygous) - pathogenic g.88512305del - c.1666del - CEP290_000030 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.1666del r.(?) p.(Ile556PhefsTer17) Unknown ACMG pathogenic (recessive) g.88512314del g.88118537del - - CEP290_000030 ACMG PVS1, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-421 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+/. - c.1666del r.(?) p.(Ile556PhefsTer17) Unknown - pathogenic g.88512314del g.88118537del 1666delA - CEP290_000030 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.1666delA r.(?) p.(Ile556Phefs*17) Parent #1 - pathogenic (recessive) g.88512314del g.88118537del c.1666_1666delA - CEP290_000030 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP001 PubMed: Huang 2018 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1666delA r.(?) p.(Ile556Phefs*17) Unknown - pathogenic g.88512314del g.88118537del CEP290/NPHP6 c.1666delA, p.Ile556Phefs*17 - CEP290_000030 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-86 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.1666delA r.(?) p.(Ile556PhefsTer17) Unknown - pathogenic g.88512314del g.88118537del CEP290 c.1666del(;)6798G>A; p.(Ile556PhefsTer17) - CEP290_000030 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F106 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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