SMTNL2 smoothelin like 2

Information
Symbol
SMTNL2
Type
protein-coding
Description
smoothelin like 2
Entrez Gene ID
342527
Genome
hg19
Position
chr17:4,487,824-4,511,614
Genome
hg38
Position
chr17:4,584,529-4,608,319
HGNC
HGNC:24764 HGNC
Ensembl
ENSG00000188176 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 78
Ranking
ClinVar
0
0
2
82
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 :
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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
HGNC HGNC:24764 HGNC
Ensembl ENSG00000188176 Ensembl
AllianceGenome HGNC:24764
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000389313.9 hg38 chr17 4,584,529 4,608,319 23,791
ENST00000338859.8 hg38 chr17 4,583,999 4,608,319 24,321
ENST00000338859.8 hg19 chr17 4,487,294 4,511,614 24,321
ENST00000389313.9 hg19 chr17 4,487,824 4,511,614 23,791
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