CLRN1 |
- 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:
- Usher syndrome type 3A Monarch
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)