SEPTIN12 septin 12

Information
Symbol
SEPTIN12
Type
protein-coding
Description
septin 12
Entrez Gene ID
124404
Genome
hg19
Position
chr16:4,827,607-4,838,346
Genome
hg38
Position
chr16:4,777,606-4,788,345
MIM
611562 OMIM
HGNC
HGNC:26348 HGNC
Ensembl
ENSG00000140623 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 30
Likely benign 0 8
risk factor 0 4
Uncertain significance 0 86
Ranking
ClinVar
0
0
0
124
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 :
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 SEPT12
SYNONYM SPGF10
MIM 611562 OMIM
HGNC HGNC:26348 HGNC
Ensembl ENSG00000140623 Ensembl
AllianceGenome HGNC:26348
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396693.9 hg38 chr16 4,777,669 4,788,346 10,678
ENST00000268231.13 hg38 chr16 4,777,606 4,788,345 10,740
ENST00000268231.13 hg19 chr16 4,827,607 4,838,346 10,740
ENST00000396693.9 hg19 chr16 4,827,670 4,838,347 10,678
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