SERPING1 serpin family G member 1

Information
Symbol
SERPING1
Type
protein-coding
Description
serpin family G member 1
Entrez Gene ID
710
Genome
hg19
Position
chr11:57,365,657-57,386,632
Genome
hg38
Position
chr11:57,598,184-57,619,159
MIM
606860 OMIM
HGNC
HGNC:1228 HGNC
Ensembl
ENSG00000149131 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 258
Likely pathogenic 0 86
Benign 6 104
Likely benign 0 276
Conflicting classifications of pathogenicity 0 38
not provided 0 20
Uncertain significance 0 320
Ranking
ClinVar
0
0
116
794
114
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 C1IN
SYNONYM C1INH
SYNONYM C1NH
SYNONYM HAE1
SYNONYM HAE2
MIM 606860 OMIM
HGNC HGNC:1228 HGNC
Ensembl ENSG00000149131 Ensembl
AllianceGenome HGNC:1228
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000403558.1 hg38 chr11 57,597,803 57,614,814 17,012
ENST00000278407.9 hg38 chr11 57,597,685 57,614,848 17,164
ENST00000378324.6 hg38 chr11 57,597,690 57,614,847 17,158
ENST00000378323.8 hg38 chr11 57,597,688 57,614,739 17,052
ENST00000340687.10 hg38 chr11 57,597,683 57,614,846 17,164
ENST00000619430.2 hg38 chr11 57,597,563 57,614,848 17,286
ENST00000677625.1 hg38 chr11 57,598,184 57,614,831 16,648
ENST00000676670.1 hg38 chr11 57,598,184 57,619,159 20,976
ENST00000340687.10 hg19 chr11 57,365,156 57,382,319 17,164
ENST00000278407.9 hg19 chr11 57,365,158 57,382,321 17,164
ENST00000378323.8 hg19 chr11 57,365,161 57,382,212 17,052
ENST00000378324.6 hg19 chr11 57,365,163 57,382,320 17,158
ENST00000403558.1 hg19 chr11 57,365,276 57,382,287 17,012
ENST00000619430.2 hg19 chr11 57,365,036 57,382,321 17,286
ENST00000676670.1 hg19 chr11 57,365,657 57,386,632 20,976
ENST00000677625.1 hg19 chr11 57,365,657 57,382,304 16,648
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