SIT1 signaling threshold regulating transmembrane adaptor 1

Information
Symbol
SIT1
Type
protein-coding
Description
signaling threshold regulating transmembrane adaptor 1
Entrez Gene ID
27240
Genome
hg19
Position
chr9:35,649,292-35,650,928
Genome
hg38
Position
chr9:35,649,295-35,650,931
MIM
604964 OMIM
HGNC
HGNC:17710 HGNC
Ensembl
ENSG00000137078 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
20
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 SIT
SYNONYM SIT-R
MIM 604964 OMIM
HGNC HGNC:17710 HGNC
Ensembl ENSG00000137078 Ensembl
AllianceGenome HGNC:17710
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000259608.8 hg38 chr9 35,649,295 35,650,931 1,637
ENST00000259608.8 hg19 chr9 35,649,292 35,650,928 1,637
Genome browser