Full data view for gene IQCB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001023570.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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Gender     

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Data_av     

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Owner     
+/. - c.1381C>T r.(?) p.(Arg461Ter) Unknown - pathogenic g.121500619G>A g.121781772G>A IQCB1(NM_001023570.3):c.1381C>T (p.R461*) - IQCB1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1381C>T r.(?) p.(Arg461*) Both (homozygous) - pathogenic g.121500619G>A - - - IQCB1_000013 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - 1 Dror Sharon
+/. - c.1381C>T r.(?) p.(Arg461*) Unknown ACMG pathogenic g.121500619G>A - - - IQCB1_000013 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1381C>T r.(?) p.(Arg461*) Unknown - pathogenic (recessive) g.121500619G>A - 3:121500619G>A ENST00000310864.6:c.1381C>T (Arg461Ter) - IQCB1_000013 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005007 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Parent #2 - likely pathogenic g.121500619G>A g.121781772G>A - - IQCB1_000013 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 410 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461Ter) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A - - IQCB1_000013 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam9 PubMed: Coppieters 2014 see paper - - Turkey - - - - - 1 LOVD
+/. 13 c.1381C>T r.(?) p.(Arg461*) Unknown - pathogenic g.121500619G>A - c.1381C>T - IQCB1_000013 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. 13 c.1381C>T r.(?) p.(Arg461*) Unknown - pathogenic g.121500619G>A - c.1381C>T - IQCB1_000013 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. - c.1381C>T r.(?) p.(Arg461*) Unknown - pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, p.Arg461Ter - IQCB1_000013 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005007 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.1381C>T r.(?) p.(Arg461*) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 (KIAA0036) 1381C-T, R461X - IQCB1_000013 homozygous PubMed: Otto 2005 - - Germline yes 0/155 - - - RNA RT-PCR, SEQ blood (EBV-transformed lymphoblast cell lines) candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036) retinal disease A132 (IV-1) PubMed: Otto 2005 family A132, individual IV-1 ? yes Turkey - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 (KIAA0036) 1381C-T, R461X - IQCB1_000013 homozygous PubMed: Otto 2005 - - Germline yes 0/155 - - - RNA RT-PCR, SEQ blood (EBV-transformed lymphoblast cell lines) candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036) retinal disease A132 (IV-5) PubMed: Otto 2005 family A132, individual IV-5 ? yes Turkey - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 (KIAA0036) 1381C-T, R461X - IQCB1_000013 homozygous PubMed: Otto 2005 - - Germline yes 0/155 - - - RNA RT-PCR, SEQ blood (EBV-transformed lymphoblast cell lines) candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036) retinal disease A132 (IV-6) PubMed: Otto 2005 family A132, individual IV-6 ? yes Turkey - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461Ter) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A NPHP5 c.1381C>T, p.R461X - IQCB1_000013 homozygous PubMed: Otto 2008 - - Germline yes - - - - DNA SEQ blood genes: NPHP1-NPHP31 retinal disease F1395 PubMed: Otto 2008 - ? no Germany - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, p.R461X - IQCB1_000013 homozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease MOGL430 PubMed: Estrada-Cuzcano 2011 Family 1, proband M - Puerto Rico - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, p.R461X - IQCB1_000013 homozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease MOGL3773 PubMed: Estrada-Cuzcano 2011 Family 1, proband's daughter 1 F - Puerto Rico - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, p.R461X - IQCB1_000013 homozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease MOGL3772 PubMed: Estrada-Cuzcano 2011 Family 1, proband's daughter 2 F - Puerto Rico - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Parent #1 - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, Arg461Stop - IQCB1_000013 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 4 PubMed: Stone 2011 - M - - - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Parent #1 - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, Arg461Stop - IQCB1_000013 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 5 PubMed: Stone 2011 - M - - - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Parent #1 - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, Arg461Stop - IQCB1_000013 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 8 PubMed: Stone 2011 - F - - - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Both (homozygous) - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, Arg461Stop - IQCB1_000013 homozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 9 PubMed: Stone 2011 - F - - - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Parent #2 - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381C>T, Arg461Stop - IQCB1_000013 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Stone 2011 - F - - - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Parent #1 - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381c.T, p.R461X - IQCB1_000013 heterozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P18 PubMed: Cideciyan 2011 - M - - - - - - - 1 LOVD
+?/. - c.1381C>T r.(?) p.(Arg461*) Parent #2 - likely pathogenic g.121500619G>A g.121781772G>A IQCB1 c.1381c.T, p.R461X - IQCB1_000013 heterozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P19 PubMed: Cideciyan 2011 - F - - - - - - - 1 LOVD
+/. - c.1381C>T r.(?) p.(Arg461*) Unknown - pathogenic g.121500619G>A g.121781772G>A NPHP5 R461X - IQCB1_000013 mutations tested found previously in patients; no cDNA annotation - extrapolated from protein and databases PubMed: Barbelanne 2013 - - In vitro (cloned) ? - - - - DNA ? - - retinal disease ? PubMed: Barbelanne 2013 - - - - - - - - - 1 LOVD
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