The SERPING1 gene homepage

General information
Gene symbol SERPING1
Gene name serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Chromosome 11
Chromosomal band q12.1
Imprinted Unknown
Genomic reference LRG_105
Transcript reference NM_000062.2
Exon/intron information NM_000062.2 exon/intron table
Associated with diseases C4D, HAE1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Christian Drouet
Total number of public variants reported 1113
Unique public DNA variants reported 1033
Individuals with public variants 3535
Hidden variants 1
Download all this gene's data Download all data
Notes alias C1NH.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated April 07, 2024
Version SERPING1:240407

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000062.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/SERPING1
HGNC 1228
Entrez Gene 710
PubMed articles SERPING1
OMIM - Gene 606860
OMIM - Diseases C4D (complement component 4, partial deficiency of (C4D))
HAE1 (angioedema, hereditary, type 1 (HAE-1))
HGMD SERPING1
GeneCards SERPING1
GeneTests SERPING1
Orphanet SERPING1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018730 11 transcript variant 1 NM_000062.2 NP_000053.2 1113


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