SEPTIN3 septin 3

Information
Symbol
SEPTIN3
Type
protein-coding
Description
septin 3
Entrez Gene ID
55964
Genome
hg19
Position
chr22:42,365,447-42,394,225
Genome
hg38
Position
chr22:41,969,443-41,998,221
MIM
608314 OMIM
HGNC
HGNC:10750 HGNC
Ensembl
ENSG00000100167 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
24
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
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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 :
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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 SEP3
SYNONYM SEPT3
SYNONYM bK250D10.3
MIM 608314 OMIM
HGNC HGNC:10750 HGNC
Ensembl ENSG00000100167 Ensembl
AllianceGenome HGNC:10750
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396425.8 hg38 chr22 41,976,778 41,998,221 21,444
ENST00000396426.7 hg38 chr22 41,976,810 41,998,221 21,412
ENST00000644076.2 hg38 chr22 41,969,443 41,998,221 28,779
ENST00000406029.5 hg38 chr22 41,976,845 41,997,728 20,884
ENST00000644076.2 hg19 chr22 42,365,447 42,394,225 28,779
ENST00000396425.8 hg19 chr22 42,372,782 42,394,225 21,444
ENST00000396426.7 hg19 chr22 42,372,814 42,394,225 21,412
ENST00000406029.5 hg19 chr22 42,372,849 42,393,732 20,884
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