SERPIND1 serpin family D member 1

Information
Symbol
SERPIND1
Type
protein-coding
Description
serpin family D member 1
Entrez Gene ID
3053
Genome
hg19
Position
chr22:21,128,401-21,142,008
Genome
hg38
Position
chr22:20,774,113-20,787,720
MIM
142360 OMIM
HGNC
HGNC:4838 HGNC
Ensembl
ENSG00000099937 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 2
Benign 8 16
Likely benign 0 28
Conflicting classifications of pathogenicity 0 4
not provided 14 0
Uncertain significance 0 56
Ranking
ClinVar
0
0
8
90
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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
SYNONYM D22S673
SYNONYM HC2
SYNONYM HCF2
SYNONYM HCII
SYNONYM HLS2
SYNONYM LS2
SYNONYM THPH10
MIM 142360 OMIM
HGNC HGNC:4838 HGNC
Ensembl ENSG00000099937 Ensembl
AllianceGenome HGNC:4838
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000406799.1 hg38 chr22 20,779,181 20,787,232 8,052
ENST00000215727.10 hg38 chr22 20,774,113 20,787,720 13,608
ENST00000215727.10 hg19 chr22 21,128,401 21,142,008 13,608
ENST00000406799.1 hg19 chr22 21,133,469 21,141,520 8,052
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