USHBP1 USH1 protein network component harmonin binding protein 1

Information
Symbol
USHBP1
Type
protein-coding
Description
USH1 protein network component harmonin binding protein 1
Entrez Gene ID
83878
Genome
hg19
Position
chr19:17,359,980-17,375,554
Genome
hg38
Position
chr19:17,249,171-17,264,745
MIM
611810 OMIM
HGNC
HGNC:24058 HGNC
Ensembl
ENSG00000130307 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 10
Uncertain significance 0 112
Ranking
ClinVar
0
0
0
122
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 AIEBP
SYNONYM MCC2
MIM 611810 OMIM
HGNC HGNC:24058 HGNC
Ensembl ENSG00000130307 Ensembl
AllianceGenome HGNC:24058
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000431146.6 hg38 chr19 17,250,154 17,264,724 14,571
ENST00000252597.8 hg38 chr19 17,249,171 17,264,745 15,575
ENST00000252597.8 hg19 chr19 17,359,980 17,375,554 15,575
ENST00000431146.6 hg19 chr19 17,360,963 17,375,533 14,571
Genome browser