USH1C USH1 protein network component harmonin

Information
Symbol
USH1C
Type
protein-coding
Description
USH1 protein network component harmonin
Entrez Gene ID
10083
Genome
hg19
Position
chr11:17,515,447-17,565,963
Genome
hg38
Position
chr11:17,493,900-17,544,416
MIM
605242 OMIM
HGNC
HGNC:12597 HGNC
Ensembl
ENSG00000006611 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 156
Likely pathogenic 0 204
Benign 0 237
Likely benign 0 1,286
Conflicting classifications of pathogenicity 0 140
not provided 0 2
Uncertain significance 0 728
Ranking
ClinVar
0
0
463
2,032
24
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AIE-75
SYNONYM DFNB18
SYNONYM DFNB18A
SYNONYM NY-CO-37
SYNONYM NY-CO-38
SYNONYM PDZ-45
SYNONYM PDZ-73
SYNONYM PDZ-73/NY-CO-38
SYNONYM PDZ73
SYNONYM PDZD7C
SYNONYM ush1cpst
MIM 605242 OMIM
HGNC HGNC:12597 HGNC
Ensembl ENSG00000006611 Ensembl
AllianceGenome HGNC:12597
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000527720.5 hg38 chr11 17,493,897 17,533,510 39,614
ENST00000527020.5 hg38 chr11 17,493,900 17,544,400 50,501
ENST00000318024.9 hg38 chr11 17,493,900 17,544,416 50,517
ENST00000005226.12 hg38 chr11 17,493,900 17,544,416 50,517
ENST00000527720.5 hg19 chr11 17,515,444 17,555,057 39,614
ENST00000527020.5 hg19 chr11 17,515,447 17,565,947 50,501
ENST00000005226.12 hg19 chr11 17,515,447 17,565,963 50,517
ENST00000318024.9 hg19 chr11 17,515,447 17,565,963 50,517
Genome browser