USH1G USH1 protein network component sans

Information
Symbol
USH1G
Type
protein-coding
Description
USH1 protein network component sans
Entrez Gene ID
124590
Genome
hg19
Position
chr17:72,912,175-72,919,350
Genome
hg38
Position
chr17:74,916,083-74,923,255
MIM
607696 OMIM
HGNC
HGNC:16356 HGNC
Ensembl
ENSG00000182040 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 74
Likely pathogenic 0 24
Benign 0 20
Likely benign 0 237
Conflicting classifications of pathogenicity 0 44
Uncertain significance 0 466
Ranking
ClinVar
0
0
118
663
18
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 ANKS4A
SYNONYM SANS
MIM 607696 OMIM
HGNC HGNC:16356 HGNC
Ensembl ENSG00000182040 Ensembl
AllianceGenome HGNC:16356
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000614341.5 hg38 chr17 74,916,083 74,923,255 7,173
ENST00000614341.5 hg19 chr17 72,912,175 72,919,350 7,176
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