SOX3 SRY-box transcription factor 3

Information
Symbol
SOX3
Type
protein-coding
Description
SRY-box transcription factor 3
Entrez Gene ID
6658
Genome
hg19
Position
chrX:139,585,150-139,587,234
Genome
hg38
Position
chrX:140,502,985-140,505,069
MIM
313430 OMIM
HGNC
HGNC:11199 HGNC
Ensembl
ENSG00000134595 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 4
Likely pathogenic 0 2
Benign 0 22
Likely benign 0 60
Conflicting classifications of pathogenicity 0 12
not provided 6 0
Uncertain significance 0 86
Ranking
ClinVar
0
0
36
122
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 GHDX
SYNONYM MRGH
SYNONYM PHP
SYNONYM PHPX
SYNONYM SOXB
MIM 313430 OMIM
HGNC HGNC:11199 HGNC
Ensembl ENSG00000134595 Ensembl
AllianceGenome HGNC:11199
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000370536.5 hg38 chrX 140,502,985 140,505,069 2,085
ENST00000370536.5 hg19 chrX 139,585,150 139,587,234 2,085
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