CLRN1, clarin 1, 7401

N. diseases: 77; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation BEFREE Because the CLRN1(N48K) mutation causes both hearing and vision loss, BF844 could in principle prevent both sensory deficiencies in patients with USH3. 27110679 2016
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR The missense mutation CLRN1(N48K), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews. 26180195 2015
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation BEFREE The missense mutation CLRN1(N48K), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews. 26180195 2015
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene. 22787034 2012
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation UNIPROT Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. 23304067 2012
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane. 19753315 2009
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton. 19423712 2009
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation UNIPROT Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898 2008
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. 18281613 2008
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation. 16028794 2005
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation UNIPROT Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. 15521980 2004
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. 14569126 2003
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385 2002
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation UNIPROT Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.820 CausalMutation CLINVAR Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation UNIPROT USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385 2002
dbSNP: rs111033258
rs111033258
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.820 GeneticVariation UNIPROT Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702 2001
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.810 GeneticVariation UNIPROT Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. 23304067 2012
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.810 GeneticVariation UNIPROT Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898 2008
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.810 GeneticVariation BEFREE It is noticeable that, whereas C40G family is clinically compatible with Usher syndrome type III due to the progression of the hearing loss, Y63X family could be diagnosed as Usher syndrome type I because the hearing impairment is profound and stable. 15521980 2004
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.810 GeneticVariation UNIPROT It is noticeable that, whereas C40G family is clinically compatible with Usher syndrome type III due to the progression of the hearing loss, Y63X family could be diagnosed as Usher syndrome type I because the hearing impairment is profound and stable. 15521980 2004
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.810 GeneticVariation UNIPROT Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.810 GeneticVariation UNIPROT USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385 2002
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		0.810 GeneticVariation UNIPROT Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702 2001
dbSNP: rs121908143
rs121908143
Entrez Id: 7401;116933
Gene Symbol: CLRN1;CLRN1-AS1
CLRN1;CLRN1-AS1
CUI: C1568248
Disease:
Usher Syndrome, Type III 		C 0.810 CausalMutation CLINVAR