• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CLRN1 (HGNC:12605) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
clarin 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
USH3, USH3A, RP61
Alias symbols
No aliases found
%HI
42.65(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.81(Read more about gnomAD LOEUF score)
Cytoband
3q25.1
Genomic Coordinates
GRCh37/hg19: chr3:150643950-150690786 NCBI Ensembl UCSC
GRCh38/hg38: chr3:150926163-150972999 NCBI Ensembl UCSC
MANE Select Transcript
NM_174878.3 ENST00000327047.6 (Read more about MANE Select)
Function
May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina. {ECO:0000269|PubMed:12080385}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33533
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in CLRN1 have been reported in association with Usher syndrome type 3 (USH3), an autosomal recessive condition. Furthermore, the overall evidence that CLRN1, when altered, causes USH3 has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)