SPRING1 SREBF pathway regulator in golgi 1

Information
Symbol
SPRING1
Type
protein-coding
Description
SREBF pathway regulator in golgi 1
Entrez Gene ID
79794
Genome
hg19
Position
chr12:117,147,976-117,175,874
Genome
hg38
Position
chr12:116,710,171-116,738,069
HGNC
HGNC:26128 HGNC
Ensembl
ENSG00000111412 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Ranking
ClinVar
0
0
0
4
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 :
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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 C12orf49
SYNONYM LUR1
SYNONYM POST1
SYNONYM SPRING
HGNC HGNC:26128 HGNC
Ensembl ENSG00000111412 Ensembl
AllianceGenome HGNC:26128
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000548356.1 hg38 chr12 116,717,336 116,720,127 2,792
ENST00000261318.5 hg38 chr12 116,710,171 116,738,069 27,899
ENST00000261318.5 hg19 chr12 117,147,976 117,175,874 27,899
ENST00000548356.1 hg19 chr12 117,155,141 117,157,932 2,792
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