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.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Disease     

ID_report     

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+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - OMIM:var0001 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Johan den Dunnen
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 copied from CEP290 database - - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 11 Johan den Dunnen
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Paternal (inferred) - pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - JBTS1 - - - - - Saudi Arabia - - - - - 1 Anas M Alazami
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Maternal (inferred) - pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - JBTS1 - - - - - Saudi Arabia - - - - - 1 Anas M Alazami
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Parent #2 - pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - PubMed: Watson 2016, Journal: Watson 2016 - - Germline - - - - - DNA SEQ-NG - - MKS1 - PubMed: Watson 2016, Journal: Watson 2016 - - - United Kingdom (Great Britain) - - - - - 1 Christopher Watson
+/. - c.5668G>T r.(?) p.(Gly1890Ter) Unknown - pathogenic g.88471040C>A g.88077263C>A CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*) - CEP290_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5668G>T r.(?) p.(Gly1890Ter) Unknown - pathogenic g.88471040C>A g.88077263C>A CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*) - CEP290_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic (recessive) g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T:p.(Gly1890*) - CEP290_000088 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG1030 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic (recessive) g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T:p.(Gly1890*) - CEP290_000088 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0512 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic (recessive) g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T:p.(Gly1890*) - CEP290_000088 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG1272 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - likely pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 391 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - pathogenic (recessive) g.88471040C>A g.88077263C>A - - CEP290_000088 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case13730 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13009772 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890Ter) Unknown - likely pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG1030 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Parent #1 - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW002-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW220-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW244-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW244-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW259-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW263-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW282-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW282-4 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW246-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW250-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW286-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - pathogenic g.88471040C>A g.88077263C>A NM_025114.3:c.5668G>T - CEP290_000088 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW316-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890Ter) Unknown - pathogenic g.88471040C>A g.88077263C>A - - CEP290_000088 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1775 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.5668G>T r.(?) p.(Gly1890*) Unknown - likely pathogenic g.88471040C>A g.88077263C>A c.5668G>T; p.G1890* - CEP290_000088 - 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 455 PubMed: Brooks 2018 family 41 M - United States - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Unknown - likely pathogenic g.88471040C>A g.88077263C>A c.5668G>T; p.G1890* - CEP290_000088 - 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 441 PubMed: Brooks 2018 family 44 F - United States - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Unknown - likely pathogenic g.88471040C>A g.88077263C>A c.5668G>T; p.G1890* - CEP290_000088 - 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 480 PubMed: Brooks 2018 family 38 M - United States - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A - c.5668G/T - CEP290_000088 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 heterozygous mutation identified in mother - - Turkey - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A - c.5668G/T - CEP290_000088 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - - Pakistani - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G/T - CEP290_000088 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - United States - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G>T - CEP290_000088 - PubMed: alazami-2012 - - Germline yes - - - - DNA PCR, SEQ blood - retinal disease - PubMed: alazami-2012 - F - Saudi Arabia - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G>T - CEP290_000088 - PubMed: alazami-2012 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: alazami-2012 - F - Saudi Arabia - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G>T - CEP290_000088 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. - c.5668G>T r.(?) p.(Gly1890*) Unknown ACMG pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.(Gly1890*) - CEP290_000088 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 376 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290;NM_025114.3;c.[5668G>T];[5668G>T]p.[(Gly1890*)];[(Gly1890*)] - CEP290_000088 homozygous PubMed: Jiman 2020 - - Germline yes - - - - DNA SEQ-NG-I - 105 genes panel retinal disease 44 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290;NM_025114.3;c.[5668G>T];[5668G>T];p.[(Gly1890*)];[(Gly1890*)]; - CEP290_000088 homozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 48 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890* - CEP290_000088 homozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 5 PubMed: Devi 2020 Family 5 ? - India - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890* - CEP290_000088 homozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 6 PubMed: Devi 2020 Family 6 ? - India - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890* - CEP290_000088 homozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 7 PubMed: Devi 2020 Family 7 ? - India - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890* - CEP290_000088 homozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 10 PubMed: Devi 2020 Family 10 ? - India - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890* - CEP290_000088 homozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 11 PubMed: Devi 2020 Family 11 ? - India - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Parent #1 - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890 - CEP290_000088 compound heterozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 12 PubMed: Devi 2020 Family 12 ? - India - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890* - CEP290_000088 homozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing MKS 14 PubMed: Devi 2020 Family 14 ? - India - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890* - CEP290_000088 compound heterozygous PubMed: Devi 2020 - - Unknown ? - - - - DNA SEQ-NG blood exome sequencing JBTS 9 PubMed: Devi 2020 Family 9 ? - India - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G>T (p.Gly1890*) - CEP290_000088 - PubMed: Watson 2016 - - Germline - - - - - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Watson 2016 - - - - - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G>T - CEP290_000088 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 441 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G>T - CEP290_000088 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 455 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - pathogenic g.88471040C>A - c.5668G>T - CEP290_000088 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 480 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Parent #1 - likely pathogenic g.88471040C>A g.88077263C>A CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.5668G>T/p.G1890* - CEP290_000088 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 1113 PubMed: Weisschuh 2020 Filing key number: 760, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 5668G>T, G1890X - CEP290_000088 - PubMed: Valente 2006 - - Germline ? - - - - DNA SEQ, microsat - - retinal disease COR51_II:1 PubMed: Valente 2006 Family COR51, patient II:1 M - Turkey - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 5668G>T, G1890X - CEP290_000088 - PubMed: Valente 2006 - - Germline ? - - - - DNA SEQ, microsat - - retinal disease COR51_II:2 PubMed: Valente 2006 Family COR51, patient II:2 M - Turkey - - - - - 1 LOVD
+?/. 42 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A G5668T; G1890X - CEP290_000088 error in annotation, this change should be annotated p.(Gly1890ter); homozygous PubMed: Sayer 2006 - - Germline yes - - - - DNA SEQ, arraySNP blood - retinal disease F700 (III-4) PubMed: Sayer 2006 Family F700, patient III-4 - yes Turkey - - - - - 1 LOVD
+?/. 42 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A G5668T; G1890X - CEP290_000088 error in annotation, this change should be annotated p.(Gly1890ter); homozygous PubMed: Sayer 2006 - - Germline yes - - - - DNA SEQ, arraySNP blood - retinal disease F700 (III-6) PubMed: Sayer 2006 Family F700, patient III-6 - yes Turkey - - - - - 1 LOVD
+?/. 42 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A G5668T; G1890X - CEP290_000088 error in annotation, this change should be annotated p.(Gly1890ter); homozygous PubMed: Sayer 2006 - - Germline yes - - - - DNA SEQ, arraySNP blood - retinal disease F944 (III-1) PubMed: Sayer 2006 Family F944, patient III-1 - yes Turkey - - - - - 1 LOVD
+?/. 42 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A G5668T; G1890X - CEP290_000088 error in annotation, this change should be annotated p.(Gly1890ter); homozygous PubMed: Sayer 2006 - - Germline yes - - - - DNA SEQ, arraySNP blood - retinal disease F944 (III-2) PubMed: Sayer 2006 Family F944, patient III-2 - yes Turkey - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Paternal (confirmed) - likely pathogenic g.88471040C>A g.88077263C>A G5668T; G1890X - CEP290_000088 error in annotation, this change should be annotated p.(Gly1890ter); heterozygous PubMed: Sayer 2006 - - Germline yes - - - - DNA SEQ, arraySNP blood - retinal disease F63 (II-1) PubMed: Sayer 2006 Family F63, patient II-1 - no Germany - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890X - CEP290_000088 - PubMed: Cideciyan 2007 - - Germline ? - - - - DNA SEQ blood - retinal disease P4 PubMed: Cideciyan 2007 - M - (United States) - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890X - CEP290_000088 - PubMed: Cideciyan 2007 - - Germline ? - - - - DNA SEQ blood - retinal disease P5 PubMed: Cideciyan 2007 - F - (United States) - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Unknown - likely pathogenic g.88471040C>A g.88077263C>A 5668G>T, G1890X - CEP290_000088 no variant detected on the other allele PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease COR003 PubMed: Brancati 2007 - F no Italy - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A 5668G>T, G1890X - CEP290_000088 homozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease MTI154 PubMed: Brancati 2007 - F no India - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A 5668G>T, G1890X - CEP290_000088 homozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease MTI012 PubMed: Brancati 2007 - M yes United Arab Emirates - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A 5668G>T, G1890X - CEP290_000088 homozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease MTI587 PubMed: Brancati 2007 - M yes United Arab Emirates - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Parent #2 - likely pathogenic g.88471040C>A g.88077263C>A 5668G>T, G1890X - CEP290_000088 compound heterozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease COR125 PubMed: Brancati 2007 - F no United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 41 c.5668G>T r.(?) p.(Gly1890*) Parent #2 - likely pathogenic g.88471040C>A g.88077263C>A 5668G>T, G1890X - CEP290_000088 compound heterozygous PubMed: Brancati 2007 - - Germline yes - - - - DNA SEQ blood - retinal disease MTI118 PubMed: Brancati 2007 - F no Ireland - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Paternal (confirmed) - pathogenic g.88471040C>A g.88077263C>A CEP290 p.Gly1890X - CEP290_000088 no cDNA description in paper, extrapolated from protein annotation PubMed: Molin 2013 - - Germline yes - - - - DNA SEQ, FISH, arrayCGH blood - retinal disease 1 PubMed: Molin 2013 - F - - - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T (p.G1890*) - CEP290_000088 - PubMed: Sonmez 2020 - - Unknown ? - - - - DNA ? - - retinal disease 1 PubMed: Sonmez 2020 - - - Turkey - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - likely pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.(Gly1890*) - CEP290_000088 - PubMed: Sheck 2018 - - Unknown ? - - - - DNA ? - retrospective study retinal disease 20 PubMed: Sheck 2018 family 18269, individual 20 - - - - - - - - 1 LOVD
+?/. - c.5668G>T r.(?) p.(Gly1890*) Parent #2 - likely pathogenic g.88471040C>A g.88077263C>A c.2991+1655A>G/c.5668G>T, p.C998*/p.G1890* - CEP290_000088 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_12 PubMed: Feldhaus 2020 - F - - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890X - CEP290_000088 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F11 PubMed: Alazami 2012 - F yes - - - - - - 1 LOVD
+/. - c.5668G>T r.(?) p.(Gly1890*) Both (homozygous) - pathogenic g.88471040C>A g.88077263C>A CEP290 c.5668G>T, p.G1890X - CEP290_000088 homozygous PubMed: Alazami 2012 - - Germline yes - - - - DNA SEQ-NG blood exome sequencing JBTS JS_F12 PubMed: Alazami 2012 - F yes - - - - - - 1 LOVD
+/. 41 c.5668G>T r.(?) p.(Gly1890*) Parent #2 - pathogenic g.88471040C>A - c.5668G>T - CEP290_000088 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.5668G>T r.(?) p.(Gly1890Ter) Unknown - pathogenic g.88471040C>A - CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*) - CEP290_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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