SP8 Sp8 transcription factor

Information
Symbol
SP8
Type
protein-coding
Description
Sp8 transcription factor
Entrez Gene ID
221833
Genome
hg19
Position
chr7:20,821,899-20,826,505
Genome
hg38
Position
chr7:20,782,279-20,786,886
MIM
608306 OMIM
HGNC
HGNC:19196 HGNC
Ensembl
ENSG00000164651 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 48
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 60
Ranking
ClinVar
0
0
4
114
0
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 BTD
MIM 608306 OMIM
HGNC HGNC:19196 HGNC
Ensembl ENSG00000164651 Ensembl
AllianceGenome HGNC:19196
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000361443.4 hg38 chr7 20,784,287 20,786,886 2,600
ENST00000418710.3 hg38 chr7 20,782,279 20,786,886 4,608
ENST00000418710.3 hg19 chr7 20,821,899 20,826,505 4,607
ENST00000361443.4 hg19 chr7 20,823,906 20,826,505 2,600
Genome browser