SPPL3 signal peptide peptidase like 3

Information
Symbol
SPPL3
Type
protein-coding
Description
signal peptide peptidase like 3
Entrez Gene ID
121665
Genome
hg19
Position
chr12:121,200,313-121,342,161
Genome
hg38
Position
chr12:120,762,510-120,904,358
MIM
608240 OMIM
HGNC
HGNC:30424 HGNC
Ensembl
ENSG00000157837 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
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
SYNONYM IMP2
SYNONYM MDHV1887
SYNONYM PRO4332
SYNONYM PSH1
SYNONYM PSL4
MIM 608240 OMIM
HGNC HGNC:30424 HGNC
Ensembl ENSG00000157837 Ensembl
AllianceGenome HGNC:30424
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000353487.7 hg38 chr12 120,762,510 120,904,358 141,849
ENST00000353487.7 hg19 chr12 121,200,313 121,342,161 141,849
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