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Symbol report for USH1C

Stable symbol

HGNC data for USH1C

Approved symbol
USH1C
Approved name

USH1 protein network component harmonin

Locus type
gene with protein product
HGNC ID
HGNC:12597
Symbol status
Approved
Previous symbols
DFNB18
Previous names
deafness, autosomal recessive 18
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome 1C
Alias symbols
PDZ73
harmonin
NY-CO-37
NY-CO-38
PDZ-73
AIE-75
PDZD7C
Alias names
harmonin
Chromosomal location
11p15.1
Gene groups
Gene resources for USH1C
Ensembl
ENSG00000006611 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
10083 Curated
UCSC
uc001mne.4
Alliance of Genome Resources
HGNC:12597
Nucleotide resources for USH1C
MANE Select
NM_153676.4
ENST00000005226.12
INSDC
AB006955 Curated
ENAGenBankDDBJ
RefSeq
NM_005709 Curated
NCBI sequence viewer
Protein resources for USH1C
UniProt/Swiss-Prot
Q9Y6N9
InterProPDBeReactome
AlphaFold
AF-Q9Y6N9-F1
Orthologs from selected species for USH1C
Bos taurus
USH1C VGNC:36704 VGNC
Canis familiaris
USH1C VGNC:48172 VGNC
Equus caballus
USH1C VGNC:24825 VGNC
Felis catus
USH1C VGNC:66860 VGNC
Macaca mulatta
USH1C VGNC:78732 VGNC
Mus musculus
Ush1c MGI:1919338 Curated
Pan troglodytes
USH1C VGNC:7694 VGNC
Rattus norvegicus
Ush1c RGD:1303329
Sus scrofa
USH1C VGNC:94738 VGNC
Clinical resources for USH1C
OMIM
605242
LSDB
Mutations of the Harmonin Gene Curated
CCHMC-BMI & UC Hearing Loss Mutation Database Curated
GenCC
HGNC:12597
MedlinePlus
Search via USH1C
DECIPHER
Search via USH1C
ClinGen
Search via HGNC:12597
Genetic Testing Registry
Search via NCBI Gene ID 10083
ClinVar
Search via NCBI Gene ID 10083
dbVar
Search via NCBI Gene ID 10083
Orphanet
120433
Other resources for USH1C
AmiGO
Search via Q9Y6N9
QuickGO
Search via Q9Y6N9
BioGPS
Search via NCBI Gene ID 10083
GeneCards
Search via HGNC:12597
Monarch
Search via HGNC:12597
WikiGenes
Search via NCBI Gene ID 10083
References for USH1C