SPRTN SprT-like N-terminal domain

Information
Symbol
SPRTN
Type
protein-coding
Description
SprT-like N-terminal domain
Entrez Gene ID
83932
Genome
hg19
Position
chr1:231,474,039-231,490,769
Genome
hg38
Position
chr1:231,338,293-231,355,023
MIM
616086 OMIM
HGNC
HGNC:25356 HGNC
Ensembl
ENSG00000010072 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 14
Likely benign 0 32
Uncertain significance 0 66
Ranking
ClinVar
0
0
4
110
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 :
Search word :
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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 C1orf124
SYNONYM DVC1
SYNONYM PRO4323
SYNONYM spartan
MIM 616086 OMIM
HGNC HGNC:25356 HGNC
Ensembl ENSG00000010072 Ensembl
AllianceGenome HGNC:25356
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295050.12 hg38 chr1 231,338,293 231,355,023 16,731
ENST00000008440.9 hg38 chr1 231,338,256 231,352,521 14,266
ENST00000391858.8 hg38 chr1 231,337,104 231,353,132 16,029
ENST00000391858.8 hg19 chr1 231,472,850 231,488,878 16,029
ENST00000008440.9 hg19 chr1 231,474,002 231,488,267 14,266
ENST00000295050.12 hg19 chr1 231,474,039 231,490,769 16,731
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