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.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

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ClinVar ID     

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Disease     

ID_report     

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+?/. - c.1516_1517del r.(?) p.(His506Glnfs*13) Both (homozygous) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516-1517delCA, His506del2cagCA - IQCB1_000059 homozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: Stone 2011 - M - - - - - - - 1 LOVD
+?/. - c.1516_1517del r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516-1517delCA, His506del2cagCA - IQCB1_000059 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 2 PubMed: Stone 2011 - M - - - - - - - 1 LOVD
+?/. - c.1516_1517del r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516-1517delCA, His506del2cagCA - IQCB1_000059 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 4 PubMed: Stone 2011 - M - - - - - - - 1 LOVD
+?/. - c.1516_1517delCA r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516-1517delCA, His506del2cagCA - IQCB1_000059 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 7 PubMed: Stone 2011 - F - - - - - - - 1 LOVD
+?/. - c.1516_1517delCA r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516-1517delCA, His506del2cagCA - IQCB1_000059 heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 8 PubMed: Stone 2011 - F - - - - - - - 1 LOVD
+?/. - c.1516_1517delCA r.(?) p.(His506Glnfs*13) Both (homozygous) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516_1517delCA, p.H506del2cagCA - IQCB1_000059 homozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P16 PubMed: Cideciyan 2011 - M - - - - - - - 1 LOVD
+?/. - c.1516_1517delCA r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516_1517delCA, p.H506del2cagCA - IQCB1_000059 heterozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P15 PubMed: Cideciyan 2011 - M - - - - - - - 1 LOVD
+?/. - c.1516_1517delCA r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516_1517delCA, p.H506del2cagCA - IQCB1_000059 heterozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P17 PubMed: Cideciyan 2011 - M - - - - - - - 1 LOVD
+?/. - c.1516_1517delCA r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1516_1517delCA, p.H506del2cagCA - IQCB1_000059 heterozygous PubMed: Cideciyan 2011 - - Germline yes - - - - DNA ? - - retinal disease P18 PubMed: Cideciyan 2011 - M - - - - - - - 1 LOVD
+?/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Parent #1 - likely pathogenic g.121491452_121491453del g.121772605_121772606del c.1518_1519delCA - IQCB1_000059 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 14 c.1518_1519del r.(?) p.(His506Glnfs*13) Unknown - pathogenic g.121491452_121491453del - c.1518_1519del - IQCB1_000059 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+/. 14 c.1518_1519del r.(?) p.(His506Glnfs*13) Unknown - pathogenic g.121491452_121491453del - c.1518_1519del - IQCB1_000059 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 novel LOF mutations - no - - - - - - 1 Julia Lopez
+?/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Unknown ACMG likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1518_1519del, p.(His506Glnfs*13) - IQCB1_000059 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 418 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Unknown ACMG pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1:NM_001023570 c.1518_1519del, p.(His506Glnfs*13) - IQCB1_000059 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-104 PubMed: Rodriguez-Munoz 2020 family fRPN-38, proband F - Spain - - - - - 1 LOVD
+?/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Parent #1 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1, variant 1: c.825_828del/p.R275Sfs*6, variant 2: c.1518_1519del/p.H506Nfs*13 - IQCB1_000059 error in annotation, protein change should be p.(His506Glnfs*13) and not p.(His506Asnfs*13), solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET6 targeted sequencing panel - see paper retinal disease 15 PubMed: Weisschuh 2020 Filing key number: 9, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Unknown ACMG pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1S18_1519deICA; p.HisS06GInfsTer13 - IQCB1_000059 homozygous 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 51 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Unknown ACMG pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1518_1519deICA; p.His506GInfsTer13 - IQCB1_000059 homozygous 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 136 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1518_1519del, p.H506NfsX13 - IQCB1_000059 heterozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 12786 PubMed: Estrada-Cuzcano 2011 - F - Germany - - - - - 1 LOVD
+?/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1518_1519del, p.H506NfsX13 - IQCB1_000059 heterozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 42110 PubMed: Estrada-Cuzcano 2011 - F - Germany - - - - - 1 LOVD
+?/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Parent #2 - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 c.1518_1519del, p.H506NfsX13 - IQCB1_000059 heterozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease MOGL3572 PubMed: Estrada-Cuzcano 2011 - M - United States - - - - - 1 LOVD
+/. - c.1518_1519del r.(?) p.(His506fs*518) Unknown - pathogenic g.121491454_121491455del g.121772607_121772608del NPHP5 H506fsX518 - IQCB1_000059 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
+/. - c.1518_1519del r.(?) p.(His506Glnfs*13) Unknown - pathogenic g.121491454_121491455del - - - IQCB1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1518_1519del r.(?) p.(His506GlnfsTer13) Both (homozygous) ACMG pathogenic (recessive) g.121491454_121491455del g.121772607_121772608del - - IQCB1_000059 ACMG PM2, PVS1_STRONG, PP5_STRONG PubMed: Weisschuh 2024 93469 - Germline - - - - - DNA SEQ-NG - WGS ? LCA-163 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.1518_1519del r.(?) p.(His506GlnfsTer13) Unknown ACMG pathogenic (recessive) g.121491454_121491455del g.121772607_121772608del - - IQCB1_000059 ACMG PM2, PVS1_STRONG, PP5_STRONG PubMed: Weisschuh 2024 93469 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1124 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1518_1519del r.(?) p.(His506GlnfsTer13) Unknown ACMG pathogenic (recessive) g.121491454_121491455del g.121772607_121772608del - - IQCB1_000059 ACMG PM2, PVS1_STRONG, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1242 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.1518_1519delCA r.(?) p.(His506Glnfs*13) Both (homozygous) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5 - IQCB1_000059 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 F50 (II-1) PubMed: Otto 2005 family F50, individual II-1 ? no Germany - - - - - 1 LOVD
+?/. - c.1518_1519delCA r.(?) p.(His506Glnfs*13) Both (homozygous) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5 - IQCB1_000059 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 F50 (II-3) PubMed: Otto 2005 family F50, individual II-3 ? no Germany - - - - - 1 LOVD
+?/. - c.1518_1519delCA r.(?) p.(His506Glnfs*13) Both (homozygous) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5 - IQCB1_000059 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 F54 (II-1) PubMed: Otto 2005 family F54, individual II-1 ? no Germany - - - - - 1 LOVD
+?/. - c.1518_1519delCA r.(?) p.(His506Glnfs*13) Both (homozygous) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5 - IQCB1_000059 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 F1175 (II-1) PubMed: Otto 2005 family F1175, individual II-1 ? no Germany - - - - - 1 LOVD
+?/. - c.1518_1519delCA r.(?) p.(His506Glnfs*13) Both (homozygous) - likely pathogenic g.121491454_121491455del g.121772607_121772608del IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5 - IQCB1_000059 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 F1298 (II-2) PubMed: Otto 2005 family F1298, individual II-2 ? no Germany - - - - - 1 LOVD
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