SOX17 SRY-box transcription factor 17

Information
Symbol
SOX17
Type
protein-coding
Description
SRY-box transcription factor 17
Entrez Gene ID
64321
Genome
hg19
Position
chr8:55,370,495-55,373,452
Genome
hg38
Position
chr8:54,457,935-54,460,892
MIM
610928 OMIM
HGNC
HGNC:18122 HGNC
Ensembl
ENSG00000164736 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 6
Benign 2 40
Likely benign 0 84
not provided 16 0
Uncertain significance 0 142
Ranking
ClinVar
0
0
30
230
4
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 VUR3
MIM 610928 OMIM
HGNC HGNC:18122 HGNC
Ensembl ENSG00000164736 Ensembl
AllianceGenome HGNC:18122
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000297316.5 hg38 chr8 54,457,935 54,460,892 2,958
ENST00000297316.5 hg19 chr8 55,370,495 55,373,452 2,958
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