Full data view for gene CLN3

An NCL gene variant database
Information The variants shown are described using the NM_001042432.1 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
+/. 2 c.1213C>T r.(1213c>t) p.(Arg405Trp) Both (homozygous) - pathogenic g.28488941G>A g.28477620G>A p.(Arg405Trp) - CLN3_000016 - PubMed: Wang 2014, Batten disease database - - Germline - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database siblings; only blindness at 50-60y - - Canada Mohawk - - - - 1 Johan den Dunnen
+/. 2 c.1213C>T r.(1213c>t) p.(Arg405Trp) Both (homozygous) - pathogenic g.28488941G>A g.28477620G>A p.(Arg405Trp) - CLN3_000016 - PubMed: Wang 2014, Batten disease database - - Germline - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database only blindness at 50-60y - - Canada Mohawk - - - - 1 Johan den Dunnen
+/. 2 c.1213C>T r.(1213c>t) p.(Arg405Trp) Both (homozygous) - pathogenic g.28488941G>A g.28477620G>A p.(Arg405Trp) - CLN3_000016 - PubMed: Wang 2014, Batten disease database - - Germline - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database only blindness at 50-60y - - Canada Mohawk - - - - 1 Johan den Dunnen
+/. 2 c.1213C>T r.(1213c>t) p.(Arg405Trp) Both (homozygous) - pathogenic g.28488941G>A g.28477620G>A p.(Arg405Trp) - CLN3_000016 - PubMed: Wang 2014, Batten disease database - - Germline - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database cousin; only blindness at 50-60y - - Canada Mohawk - - - - 1 Johan den Dunnen
+/. 2 c.1213C>T r.(1213c>t) p.(Arg405Trp) Parent #1 - pathogenic g.28488941G>A g.28477620G>A p.(Arg405Trp) - CLN3_000016 - PubMed: Wang 2014, Batten disease database - - Germline - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database siblings; only blindness at 57y - - Mexico - - - - - 1 Johan den Dunnen
+/. 2 c.1213C>T r.(1213c>t) p.(Arg405Trp) Parent #1 - pathogenic g.28488941G>A g.28477620G>A p.(Arg405Trp) - CLN3_000016 - PubMed: Wang 2014, Batten disease database - - Germline - - - - - DNA SEQ - - retinal disease 24154662-? PubMed: Wang 2014, Batten disease database only blindness at 50-60y - - Mexico - - - - - 1 Johan den Dunnen
+/. - c.1213C>T r.(?) p.(Arg405Trp) Unknown - pathogenic g.28488941G>A g.28477620G>A - - CLN3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1213C>T r.(?) p.(Arg405Trp) Unknown - pathogenic (recessive) g.28488941G>A - 16:28488941G>A ENST00000569430.1:c.1213C>T (Arg405Trp) - CLN3_000016 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES and WGS retinal disease G005260 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - pathogenic (recessive) g.28488941G>A - 16:28488941G>A ENST00000569430.1:c.1213C>T (Arg405Trp) - CLN3_000016 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007728 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - pathogenic (recessive) g.28488941G>A - 16:28488941G>A ENST00000569430.1:c.1213C>T (Arg405Trp) - CLN3_000016 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000331 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Parent #2 - likely pathogenic g.28488941G>A g.28477620G>A - - CLN3_000016 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 10 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - pathogenic g.28488941G>A g.28477620G>A - - CLN3_000016 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel ? 324 PubMed: Haer-Wigman 2017 family - yes Netherlands - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - likely pathogenic (recessive) g.28488941G>A g.28477620G>A - - CLN3_000016 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - gene panel, WES retinal disease ARRP182 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. 16 c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - likely pathogenic g.28488941G>A g.28477620G>A CLN3 Ex.16 c.1213C>T p.(Arg405Trp), Ex.16 c.1213C>T p.(Arg405Trp) - CLN3_000016 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2046 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Unknown - likely pathogenic g.28488941G>A g.28477620G>A CLN3 c.1213C>T, p.Arg405Trp - CLN3_000016 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI617_001267 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Unknown - likely pathogenic g.28488941G>A g.28477620G>A CLN3 c.1213C>T, p.Arg405Trp - CLN3_000016 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005260 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - likely pathogenic g.28488941G>A g.28477620G>A CLN3 c.1213C>T, p.Arg405Trp - CLN3_000016 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007728 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - likely pathogenic g.28488941G>A g.28477620G>A CLN3 c.1213C>T, p.Arg405Trp - CLN3_000016 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000331 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - likely pathogenic g.28488941G>A g.28477620G>A CLN3 c.1213C>T, (R405W) - CLN3_000016 homozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease GC18875 PubMed: Ku 2017 - F - - - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - likely pathogenic g.28488941G>A g.28477620G>A CLN3 c.1213C>T, (R405W) - CLN3_000016 homozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease GC18983 PubMed: Ku 2017 - M - - - - - - - 1 LOVD
+?/. - c.1213C>T r.(?) p.(Arg405Trp) Parent #2 - likely pathogenic g.28488941G>A g.28477620G>A CLN3 c.1213C>T, (R405W) - CLN3_000016 heterozygous PubMed: Ku 2017 - - Germline yes - - - - DNA SEQ-NG - whole-genome sequencing or whole-exome sequencing retinal disease GC3513 PubMed: Ku 2017 - F - - - - - - - 1 LOVD
+/. 2 c.1213C>T r.(?) p.(Arg405Trp) Parent #2 - pathogenic g.28488941G>A - c.1213C>T - CLN3_000016 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 2 c.1213C>T r.(?) p.(Arg405Trp) Both (homozygous) - pathogenic g.28488941G>A - c.1213C>T - CLN3_000016 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
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