Published functional studies demonstrate the mutant protein is incompetent in binding to Cep290, mislocalized, and unable to rescue ciliogenesis (Barbelanne et al., 2013); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21866095, 25525159, 30586318, 23446637, 15723066, 21220633, 23847139, 31456290, 32581362, 33512896, 31589614, 36426739, 33535056, 28041643, 20881296, 28559085)
ClinVar Genomic variation as it relates to human health
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(12)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
12
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
Variation ID: 1830 Accession: VCV000001830.25
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 3q13.33 3: 121781772 (GRCh38) [ NCBI UCSC ] 3: 121500619 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 19, 2015 Jun 17, 2024 Apr 4, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001023570.4:c.1381C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001018864.2:p.Arg461Ter nonsense NM_001023570.3:c.1381C>T NM_001023571.4:c.982C>T NP_001018865.2:p.Arg328Ter nonsense NM_001319107.2:c.1381C>T NP_001306036.1:p.Arg461Ter nonsense NR_134968.2:n.1466C>T non-coding transcript variant NC_000003.12:g.121781772G>A NC_000003.11:g.121500619G>A NG_015887.1:g.58308C>T - Protein change
- R461*, R328*
- Other names
- -
- Canonical SPDI
- NC_000003.12:121781771:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00020 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00007
The Genome Aggregation Database (gnomAD) 0.00011
1000 Genomes Project 30x 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00017
1000 Genomes Project 0.00020
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| IQCB1 | - | - |
GRCh38 GRCh37 |
525 | 546 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Apr 4, 2024 | RCV000001904.15 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Dec 26, 2023 | RCV000230781.6 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Dec 15, 2022 | RCV000681897.8 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jan 1, 2015 | RCV000505099.1 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jun 23, 2019 | RCV001003059.1 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jul 25, 2023 | RCV003362658.2 | |
|
IQCB1-related disorder
|
Pathogenic (1) |
criteria provided, single submitter
|
Feb 15, 2023 | RCV003398416.4 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Dec 15, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001824539.3
First in ClinVar: Sep 08, 2021 Last updated: Dec 31, 2022 |
Comment:
Published functional studies demonstrate the mutant protein is incompetent in binding to Cep290, mislocalized, and unable to rescue ciliogenesis (Barbelanne et al., 2013); Nonsense variant … (more)
Published functional studies demonstrate the mutant protein is incompetent in binding to Cep290, mislocalized, and unable to rescue ciliogenesis (Barbelanne et al., 2013); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21866095, 25525159, 30586318, 23446637, 15723066, 21220633, 23847139, 31456290, 32581362, 33512896, 31589614, 36426739, 33535056, 28041643, 20881296, 28559085) (less)
|
|
|
Pathogenic
(Jul 07, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Senior-Loken syndrome 5
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV002778700.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
|
Pathogenic
(Jun 21, 2013)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000225811.5
First in ClinVar: Jun 28, 2015 Last updated: Jul 31, 2019 |
Number of individuals with the variant: 1
Sex: mixed
|
|
|
Pathogenic
(Feb 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
IQCB1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004104105.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The IQCB1 c.1381C>T variant is predicted to result in premature protein termination (p.Arg461*). This variant has been reported in homozygous or compound heterozygous states in … (more)
The IQCB1 c.1381C>T variant is predicted to result in premature protein termination (p.Arg461*). This variant has been reported in homozygous or compound heterozygous states in multiple individuals with Senior-Loken syndrome, Leber congenital amaurosis and/or other retinal diseases (Otto et al. 2005. PubMed ID: 15723066; Estrada-Cuzcano et al. 2011. PubMed ID: 20881296; Stone et al. 2017. PubMed ID: 28559085. Table S1). This variant is reported in 0.15% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-121500619-G-A). However, the frequency data for this variant is considered unreliable since metrics indicate poor data quality at this position in the gnomAD database. Nonsense variants in IQCB1 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
|
|
|
Pathogenic
(Dec 26, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Nephronophthisis
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000285675.6
First in ClinVar: Jul 01, 2016 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg461*) in the IQCB1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg461*) in the IQCB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IQCB1 are known to be pathogenic (PMID: 15723066, 21901789, 23559409, 28041643). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with Leber congenital amaurosis and/or Senior-Loken syndrome (PMID: 15723066, 20881296, 21220633, 21245082, 21866095, 23188109, 23847139, 24625443). ClinVar contains an entry for this variant (Variation ID: 1830). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Apr 04, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Senior-Loken syndrome 5
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004810319.1
First in ClinVar: Apr 15, 2024 Last updated: Apr 15, 2024 |
|
|
|
Pathogenic
(Jul 25, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV004065019.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.1381C>T (p.R461*) alteration, located in exon 13 (coding exon 11) of the IQCB1 gene, consists of a C to T substitution at nucleotide position … (more)
The c.1381C>T (p.R461*) alteration, located in exon 13 (coding exon 11) of the IQCB1 gene, consists of a C to T substitution at nucleotide position 1381. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 461. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.006% (18/282708) total alleles studied. The highest observed frequency was 0.154% (16/10370) of Ashkenazi Jewish alleles. This variant has been reported homozygous or compound heterozygous in multiple individuals with features consistent with IQCB1-related Senior-Loken syndrome (Otto, 2005; Otto, 2008; Chaki, 2011; Cideciyan, 2011; Estrada-Cuzcano, 2011; Stone, 2011; Halbritter, 2012; Coppieters, 2014; Wang, 2013; Rishi, 2021). One functional study has demonstrated that p.R461* disrupts protein-protein interactions with Cep290, causes mislocalization, and inhibits cilia formation in cells (Barbelanne, 2013). Based on the available evidence, this alteration is classified as pathogenic. (less)
|
|
|
Pathogenic
(Mar 20, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Senior-Loken syndrome 5
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004192434.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
|
|
Pathogenic
(Feb 11, 2011)
|
no assertion criteria provided
Method: literature only
|
SENIOR-LOKEN SYNDROME 5
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000022062.3
First in ClinVar: Apr 04, 2013 Last updated: Oct 19, 2015 |
Comment on evidence:
In affected members of a consanguineous Turkish family with Senior-Loken syndrome-5 (SLSN5; 609254), Otto et al. (2005) identified a homozygous C-to-T transition at nucleotide 1381 … (more)
In affected members of a consanguineous Turkish family with Senior-Loken syndrome-5 (SLSN5; 609254), Otto et al. (2005) identified a homozygous C-to-T transition at nucleotide 1381 in exon 13 of the IQCB1 gene, resulting in an arg461-to-ter (R461X) substitution. In 5 patients with early-onset retinal dystrophy diagnosed as Leber congenital amaurosis (LCA; see 204000), 2 of whom also had severe renal disease, Stone et al. (2011) identified 1 patient with homozygosity for the R461X mutation and 4 patients with compound heterozygosity for the R461X mutation and another IQCB1 mutation. A 14-year-old girl who had been diagnosed with LCA but had no manifestations of renal disease was homozygous for the R461X mutation. A 23-year-old woman with LCA who developed severe renal disease by 13 years of age was compound heterozygous for R461X and a 1-bp del (333delT; 609237.0006) in the IQCB1 gene. A 1-year-old girl and a 13-year-old boy were compound heterozygous for R461X and a 2-bp deletion (1516_1517delCA; 609237.0007) in the IQCB1 gene; both had been diagnosed with LCA, but neither had developed signs of renal disease. A 14-year-old boy with LCA who manifested severe renal disease by 13 years of age was compound heterozygous for R461X and a 1465C-T transition in the IQCB1 gene, resulting in an arg489-to-ter (R489X; 609237.0008) substitution. In a Puerto Rican father and 2 daughters diagnosed with LCA, Estrada-Cuzcano et al. (2011) identified homozygosity for the R461X mutation in the IQCB1 gene. Reevaluation of the patients' renal function revealed that all 3 had nephronophthisis: the 37-year-old father had undergone renal transplantation at age 24, the 16-year-old daughter had been on dialysis since age 13, and the 12-year-old daughter had undergone renal transplantation at 9 years of age. (less)
|
|
|
Pathogenic
(Jan 01, 2015)
|
no assertion criteria provided
Method: research
|
Retinal dystrophy
Affected status: yes
Allele origin:
unknown
|
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598851.1
First in ClinVar: Sep 09, 2017 Last updated: Sep 09, 2017 |
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: European
|
|
|
Pathogenic
(Sep 16, 2018)
|
no assertion criteria provided
Method: research
|
not provided
Affected status: yes
Allele origin:
germline
|
Gharavi Laboratory, Columbia University
Accession: SCV000809376.1
First in ClinVar: Oct 01, 2018 Last updated: Oct 01, 2018 |
|
|
|
Pathogenic
(Jun 23, 2019)
|
no assertion criteria provided
Method: research
|
Senior Loken syndrome
Affected status: yes
Allele origin:
inherited
|
Sharon lab, Hadassah-Hebrew University Medical Center
Accession: SCV001161116.1
First in ClinVar: Feb 17, 2020 Last updated: Feb 17, 2020 |
|
|
| click to load more click to collapse | |||||
Comment:
Comment:
The IQCB1 c.1381C>T variant is predicted to result in premature protein termination (p.Arg461*). This variant has been reported in homozygous or compound heterozygous states in multiple individuals with Senior-Loken syndrome, Leber congenital amaurosis and/or other retinal diseases (Otto et al. 2005. PubMed ID: 15723066; Estrada-Cuzcano et al. 2011. PubMed ID: 20881296; Stone et al. 2017. PubMed ID: 28559085. Table S1). This variant is reported in 0.15% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-121500619-G-A). However, the frequency data for this variant is considered unreliable since metrics indicate poor data quality at this position in the gnomAD database. Nonsense variants in IQCB1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Arg461*) in the IQCB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IQCB1 are known to be pathogenic (PMID: 15723066, 21901789, 23559409, 28041643). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with Leber congenital amaurosis and/or Senior-Loken syndrome (PMID: 15723066, 20881296, 21220633, 21245082, 21866095, 23188109, 23847139, 24625443). ClinVar contains an entry for this variant (Variation ID: 1830). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.1381C>T (p.R461*) alteration, located in exon 13 (coding exon 11) of the IQCB1 gene, consists of a C to T substitution at nucleotide position 1381. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 461. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.006% (18/282708) total alleles studied. The highest observed frequency was 0.154% (16/10370) of Ashkenazi Jewish alleles. This variant has been reported homozygous or compound heterozygous in multiple individuals with features consistent with IQCB1-related Senior-Loken syndrome (Otto, 2005; Otto, 2008; Chaki, 2011; Cideciyan, 2011; Estrada-Cuzcano, 2011; Stone, 2011; Halbritter, 2012; Coppieters, 2014; Wang, 2013; Rishi, 2021). One functional study has demonstrated that p.R461* disrupts protein-protein interactions with Cep290, causes mislocalization, and inhibits cilia formation in cells (Barbelanne, 2013). Based on the available evidence, this alteration is classified as pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Published functional studies demonstrate the mutant protein is incompetent in binding to Cep290, mislocalized, and unable to rescue ciliogenesis (Barbelanne et al., 2013); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21866095, 25525159, 30586318, 23446637, 15723066, 21220633, 23847139, 31456290, 32581362, 33512896, 31589614, 36426739, 33535056, 28041643, 20881296, 28559085)
Comment:
The IQCB1 c.1381C>T variant is predicted to result in premature protein termination (p.Arg461*). This variant has been reported in homozygous or compound heterozygous states in multiple individuals with Senior-Loken syndrome, Leber congenital amaurosis and/or other retinal diseases (Otto et al. 2005. PubMed ID: 15723066; Estrada-Cuzcano et al. 2011. PubMed ID: 20881296; Stone et al. 2017. PubMed ID: 28559085. Table S1). This variant is reported in 0.15% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-121500619-G-A). However, the frequency data for this variant is considered unreliable since metrics indicate poor data quality at this position in the gnomAD database. Nonsense variants in IQCB1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Arg461*) in the IQCB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IQCB1 are known to be pathogenic (PMID: 15723066, 21901789, 23559409, 28041643). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with Leber congenital amaurosis and/or Senior-Loken syndrome (PMID: 15723066, 20881296, 21220633, 21245082, 21866095, 23188109, 23847139, 24625443). ClinVar contains an entry for this variant (Variation ID: 1830). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.1381C>T (p.R461*) alteration, located in exon 13 (coding exon 11) of the IQCB1 gene, consists of a C to T substitution at nucleotide position 1381. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 461. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.006% (18/282708) total alleles studied. The highest observed frequency was 0.154% (16/10370) of Ashkenazi Jewish alleles. This variant has been reported homozygous or compound heterozygous in multiple individuals with features consistent with IQCB1-related Senior-Loken syndrome (Otto, 2005; Otto, 2008; Chaki, 2011; Cideciyan, 2011; Estrada-Cuzcano, 2011; Stone, 2011; Halbritter, 2012; Coppieters, 2014; Wang, 2013; Rishi, 2021). One functional study has demonstrated that p.R461* disrupts protein-protein interactions with Cep290, causes mislocalization, and inhibits cilia formation in cells (Barbelanne, 2013). Based on the available evidence, this alteration is classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa. | Rishi E | Canadian journal of ophthalmology. Journal canadien d'ophtalmologie | 2021 | PMID: 33535056 |
| Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. | Carss KJ | American journal of human genetics | 2017 | PMID: 28041643 |
| Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. | Coppieters F | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 24625443 |
| Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. | Wang X | Journal of medical genetics | 2013 | PMID: 23847139 |
| Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. | Halbritter J | Human genetics | 2013 | PMID: 23559409 |
| Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. | Barbelanne M | Human molecular genetics | 2013 | PMID: 23446637 |
| High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. | Halbritter J | Journal of medical genetics | 2012 | PMID: 23188109 |
| Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. | Wang X | Human mutation | 2011 | PMID: 21901789 |
| Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. | Chaki M | Kidney international | 2011 | PMID: 21866095 |
| Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. | Cideciyan AV | Human molecular genetics | 2011 | PMID: 21245082 |
| Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. | Stone EM | Archives of ophthalmology (Chicago, Ill. : 1960) | 2011 | PMID: 21220633 |
| IQCB1 mutations in patients with leber congenital amaurosis. | Estrada-Cuzcano A | Investigative ophthalmology & visual science | 2011 | PMID: 20881296 |
| Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. | Otto EA | Human mutation | 2008 | PMID: 18076122 |
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. | Otto EA | Nature genetics | 2005 | PMID: 15723066 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IQCB1 | - | - | - | - |
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Text-mined citations for rs121918244 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.