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.

27 entries on 1 page. Showing entries 1 - 27.
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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     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 6 c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic (recessive) g.121527825_121527826del g.121808978_121808979del - - IQCB1_000040 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC00953 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527825_121527826del g.121808978_121808979del c.424_425delTT - IQCB1_000040 - 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
+/. - c.424_425del r.(?) p.(Phe142Profs*5) Unknown - pathogenic (recessive) g.121527825_121527826del - 3:121527824GAA>G ENST00000310864.6:c.424_425delTT (Phe142ProfsTer5) - IQCB1_000040 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007704 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.424_425del r.(?) p.(Phe142Profs*5) Unknown - pathogenic g.121527828_121527829del g.121808981_121808982del - - IQCB1_000040 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 398 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 399 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 410 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del 421_422delTT - IQCB1_000040 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 411 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.424_425del r.(?) p.(Phe142Profs*5) Unknown - pathogenic g.121527828_121527829del g.121808981_121808982del - - IQCB1_000040 - PubMed: Haer-Wigman 2017 - - Germline yes - - - - DNA SEQ-NG - gene panel ? 1955 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142ProfsTer5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del - - IQCB1_000040 - PubMed: Coppieters 2014 - - Germline - - - - - DNA SEQ - WES retinal disease Fam10 PubMed: Coppieters 2014 see paper - yes Belgium - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1, variant 1: c.424_425del/p.F142Pfs*5, variant 2: c.812del/p.S271Ifs*11 - IQCB1_000040 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 441 PubMed: Weisschuh 2020 Filing key number: 141, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.424_425del r.(?) p.(Phe142Profs*5) Unknown - pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 c.424_425delTT, p.Phe142ProfsTer5 - IQCB1_000040 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007704 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.424_425del r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 c.424_425del, p.F142PfsX5 - IQCB1_000040 homozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 42108 PubMed: Estrada-Cuzcano 2011 - F - Germany - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 c.424_425del, p.F142PfsX5 - IQCB1_000040 heterozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 12786 PubMed: Estrada-Cuzcano 2011 - F - Germany - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 c.424_425del, p.F142PfsX5 - IQCB1_000040 heterozygous PubMed: Estrada-Cuzcano 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 13079 PubMed: Estrada-Cuzcano 2011 - M - Netherlands - - - - - 1 LOVD
+?/. - c.424_425del r.(?) p.(Phe142Profs*5) Parent #2 - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 c.421-422delTT, Phe141del2cacTT - IQCB1_000040 error in annotation: p.(Phe142Profs*5) and not Phe141del2cacTT; heterozygous PubMed: Stone 2011 - - Germline yes - - - - DNA SEQ blood - retinal disease 6 PubMed: Stone 2011 - F - - - - - - - 1 LOVD
+/. - c.424_425del r.(?) p.(Phe142fs*146) Unknown - pathogenic g.121527828_121527829del g.121808981_121808982del NPHP5 F142fsX146 - IQCB1_000040 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
+/. 6 c.424_425del r.(?) p.(Phe142Profs*5) Parent #2 - pathogenic g.121527825_121527826del - c.424_425del - IQCB1_000040 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 6 c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - pathogenic g.121527825_121527826del - c.424_425del - IQCB1_000040 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.424_425del r.(?) p.(Phe142ProfsTer5) Unknown ACMG pathogenic (recessive) g.121527828_121527829del g.121808981_121808982del - - IQCB1_000040 ACMG PM2, PVS1, PP5, PS4 PubMed: Weisschuh 2024 1831 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1242 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 6 c.424_425del r.(?) p.(Phe142Profs*5) Parent #1 - pathogenic (recessive) g.121527828_121527829del g.121808981_121808982del 424_425delAA - IQCB1_000040 - PubMed: Fadaie 2021, PubMed: De Bruijn 2025 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-PB, OM blood - SLSN Pat58 PubMed: Fadaie 2021, PubMed: De Bruijn 2025 - F - Netherlands - - - - - 1 Suzanne de Bruijn
+?/. - c.424_425delTT r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 (KIAA0036) 424–425delTT, F142fsX1 - IQCB1_000040 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 F1 (II-1) PubMed: Otto 2005 family F1, individual II-1 ? yes Germany - - - - - 1 LOVD
+?/. - c.424_425delTT r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 (KIAA0036) 424–425delTT, F142fsX1 - IQCB1_000040 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 F1 (II-2) PubMed: Otto 2005 family F1, individual II-2 ? yes Germany - - - - - 1 LOVD
+?/. - c.424_425delTT r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 (KIAA0036) 424–425delTT, F142fsX1 - IQCB1_000040 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 F399 (II-1) PubMed: Otto 2005 family F399, individual II-1 ? no Germany - - - - - 1 LOVD
+?/. - c.424_425delTT r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 (KIAA0036) 424–425delTT, F142fsX1 - IQCB1_000040 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 F408 (II-1) PubMed: Otto 2005 family F408, individual II-1 ? no Switzerland - - - - - 1 LOVD
+?/. - c.424_425delTT r.(?) p.(Phe142Profs*5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del IQCB1 (KIAA0036) 424–425delTT, F142fsX1 - IQCB1_000040 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 F409 (II-1) PubMed: Otto 2005 family F409, individual II-1 ? no Switzerland - - - - - 1 LOVD
+?/. - c.424_425delTT r.(?) p.(Phe142ProfsTer5) Both (homozygous) - likely pathogenic g.121527828_121527829del g.121808981_121808982del NPHP5 c.424_425delTT, p.F142fsX146 - IQCB1_000040 homozygous PubMed: Otto 2008 - - Unknown ? - - - - DNA SEQ blood genes: NPHP1-NPHP28 retinal disease A567 PubMed: Otto 2008 - ? no Austria - - - - - 1 LOVD
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