SERPINC1 serpin family C member 1

Information
Symbol
SERPINC1
Type
protein-coding
Description
serpin family C member 1
Entrez Gene ID
462
Genome
hg19
Position
chr1:173,872,938-173,886,465
Genome
hg38
Position
chr1:173,903,800-173,917,327
MIM
107300 OMIM
HGNC
HGNC:775 HGNC
Ensembl
ENSG00000117601 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 138
Likely pathogenic 6 108
Benign 8 38
Likely benign 0 154
Conflicting classifications of pathogenicity 0 24
not provided 0 30
Uncertain significance 0 180
Ranking
ClinVar
0
44
52
444
62
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 AT3
SYNONYM AT3D
SYNONYM ATIII
SYNONYM ATIII-R2
SYNONYM ATIII-T1
SYNONYM ATIII-T2
SYNONYM THPH7
MIM 107300 OMIM
HGNC HGNC:775 HGNC
Ensembl ENSG00000117601 Ensembl
AllianceGenome HGNC:775
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367698.4 hg38 chr1 173,903,800 173,917,327 13,528
ENST00000367698.4 hg19 chr1 173,872,938 173,886,465 13,528
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