SMTN smoothelin

Information
Symbol
SMTN
Type
protein-coding
Description
smoothelin
Entrez Gene ID
6525
Genome
hg19
Position
chr22:31,478,907-31,500,452
Genome
hg38
Position
chr22:31,082,921-31,104,466
MIM
602127 OMIM
HGNC
HGNC:11126 HGNC
Ensembl
ENSG00000183963 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 12
Uncertain significance 0 150
Ranking
ClinVar
0
0
0
170
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
MIM 602127 OMIM
HGNC HGNC:11126 HGNC
Ensembl ENSG00000183963 Ensembl
AllianceGenome HGNC:11126
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000333137.12 hg38 chr22 31,081,318 31,104,624 23,307
ENST00000358743.5 hg38 chr22 31,081,319 31,104,623 23,305
ENST00000404574.5 hg38 chr22 31,093,358 31,104,623 11,266
ENST00000619644.5 hg38 chr22 31,082,921 31,104,466 21,546
ENST00000612341.4 hg38 chr22 31,084,996 31,104,623 19,628
ENST00000440425.6 hg38 chr22 31,081,308 31,104,556 23,249
ENST00000347557.6 hg38 chr22 31,081,319 31,104,624 23,306
ENST00000440425.6 hg19 chr22 31,477,294 31,500,542 23,249
ENST00000333137.12 hg19 chr22 31,477,304 31,500,610 23,307
ENST00000358743.5 hg19 chr22 31,477,305 31,500,609 23,305
ENST00000347557.6 hg19 chr22 31,477,305 31,500,610 23,306
ENST00000404574.5 hg19 chr22 31,489,344 31,500,609 11,266
ENST00000612341.4 hg19 chr22 31,480,982 31,500,609 19,628
ENST00000619644.5 hg19 chr22 31,478,907 31,500,452 21,546
Genome browser