SOX6 SRY-box transcription factor 6

Information
Symbol
SOX6
Type
protein-coding
Description
SRY-box transcription factor 6
Entrez Gene ID
55553
Genome
hg19
Position
chr11:15,987,995-16,378,092
Genome
hg38
Position
chr11:15,966,449-16,356,546
MIM
607257 OMIM
HGNC
HGNC:16421 HGNC
Ensembl
ENSG00000110693 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 22
Benign 0 52
Likely benign 0 78
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 136
Ranking
ClinVar
0
0
36
260
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
[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 HSSOX6
SYNONYM SOXD
SYNONYM TOLCAS
MIM 607257 OMIM
HGNC HGNC:16421 HGNC
Ensembl ENSG00000110693 Ensembl
AllianceGenome HGNC:16421
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000655819.1 hg38 chr11 15,966,449 16,402,867 436,419
ENST00000316399.10 hg38 chr11 15,966,449 16,341,269 374,821
ENST00000396356.7 hg38 chr11 15,966,449 16,476,388 509,940
ENST00000683767.1 hg38 chr11 15,966,449 16,356,546 390,098
ENST00000527619.6 hg38 chr11 15,972,708 16,402,846 430,139
ENST00000528429.5 hg38 chr11 15,972,708 16,402,863 430,156
ENST00000528252.5 hg38 chr11 15,972,699 16,408,884 436,186
ENST00000316399.10 hg19 chr11 15,987,995 16,362,815 374,821
ENST00000396356.7 hg19 chr11 15,987,995 16,497,935 509,941
ENST00000528252.5 hg19 chr11 15,994,245 16,430,430 436,186
ENST00000527619.6 hg19 chr11 15,994,254 16,424,392 430,139
ENST00000528429.5 hg19 chr11 15,994,254 16,424,409 430,156
ENST00000655819.1 hg19 chr11 15,987,995 16,424,413 436,419
ENST00000683767.1 hg19 chr11 15,987,995 16,378,092 390,098
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