SASH3 SAM and SH3 domain containing 3

Information
Symbol
SASH3
Type
protein-coding
Description
SAM and SH3 domain containing 3
Entrez Gene ID
54440
Genome
hg19
Position
chrX:128,913,925-128,929,177
Genome
hg38
Position
chrX:129,779,949-129,795,201
MIM
300441 OMIM
HGNC
HGNC:15975 HGNC
Ensembl
ENSG00000122122 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 6
Likely benign 0 6
not provided 6 0
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
46
8
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 753P9
SYNONYM CXorf9
SYNONYM HACS2
SYNONYM IMD102
SYNONYM SH3D6C
SYNONYM SLY
MIM 300441 OMIM
HGNC HGNC:15975 HGNC
Ensembl ENSG00000122122 Ensembl
AllianceGenome HGNC:15975
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000356892.4 hg38 chrX 129,779,949 129,795,201 15,253
ENST00000356892.4 hg19 chrX 128,913,925 128,929,177 15,253
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