SERPING1 Chromosome 11
Serpin family G member 1
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What This Gene Does
This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"Serpin peptidase inhibitors|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
11q12.1
Ensembl
ENSG00000149131
Associated Conditions (8)
Angioedema
Hereditary angioedema type 1
Inborn genetic diseases
SERPING1-related disorder
C1 inhibitor deficiency
Hereditary angioedema with C1Inh deficiency
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Malignant tumor of urinary bladder
Key Variants
RS1026657804
Conflicting classifications of pathogenicity
Angioedema, Angioedema
Health Risk
RS1057520366
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
RS11229062
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
RS1263371770
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
RS1322345200
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
RS1335168882
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
RS1371887844
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
RS141529833
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Inborn genetic diseases, Hereditary angioedema type 1
Health Risk
RS1433680488
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
RS143997164
Conflicting classifications of pathogenicity
Health Risk
RS147409450
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Inborn genetic diseases, Hereditary angioedema type 1
Health Risk
RS1590826703
Conflicting classifications of pathogenicity
Hereditary angioedema type 1, Hereditary angioedema type 1
Health Risk
All Variants (251)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135328049 | Health Risk | Likely pathogenic | — |
| RS2135328051 | Health Risk | Likely pathogenic | Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency |
| RS2495420847 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495421098 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495421197 | Health Risk | Likely pathogenic | Inborn genetic diseases, Hereditary angioedema type 1, Inborn genetic diseases |
| RS2495426698 | Health Risk | Likely pathogenic | — |
| RS2495430901 | Health Risk | Likely pathogenic | — |
| RS2495440350 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440471 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440966 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495440974 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495442676 | Health Risk | Likely pathogenic | — |
| RS2495452135 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452187 | Health Risk | Likely pathogenic | Angioedema, Angioedema |
| RS2495452418 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452742 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495452889 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495457910 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458168 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS2495458312 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS281875168 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS766491693 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS886041353 | Health Risk | Likely pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1064793792 | Health Risk | Pathogenic | — |
| RS1064793917 | Health Risk | Pathogenic | — |
| RS1085307611 | Health Risk | Pathogenic | — |
| RS111709785 | Health Risk | Pathogenic | — |
| RS112565881 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS112666115 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS113263597 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1168397543 | Health Risk | Pathogenic | — |
| RS121907947 | Health Risk | Pathogenic | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary C1 esterase inhibitor deficiency - dysfunctional factor |
| RS121907948 | Health Risk | Pathogenic | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary angioedema type 1, Inborn genetic diseases |
| RS121907949 | Health Risk | Pathogenic | Hereditary C1 esterase inhibitor deficiency - dysfunctional factor, Hereditary C1 esterase inhibitor deficiency - dysfunctional factor |
| RS121907951 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1291031675 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1314284778 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1470120365 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554994909 | Health Risk | Pathogenic | — |
| RS1554995260 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554995271 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554995860 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554996817 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1554996819 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1565168898 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1565169419 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1565169621 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1565169693 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1565170287 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |
| RS1565170364 | Health Risk | Pathogenic | Hereditary angioedema type 1, Hereditary angioedema type 1 |