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SERPING1

Synonyms
C1IN, C1INH, C1NH, HAE1, HAE2
External resources
Summary
This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its protein inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. Deficiency of this protein is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
277
Likely pathogenic
369
VUS
4,445
Likely benign
100
Benign
866

Patient Phenotypes

Proportions of phenotypes among 621 patients carrying pathogenic or likely pathogenic variants on SERPING1 gene are displayed below. The following symptoms were found in patients with a variant in SERPING1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.3%
Abnormality of the musculoskeletal system
36.6%
Abnormality of head or neck
26.1%
Abnormality of the eye
24.8%
Abnormality of the cardiovascular system
24%
Abnormality of limbs
16.1%
Growth abnormality
15.6%
Abnormality of the ear
14.5%
Abnormality of the integument
12.1%
Abnormality of the genitourinary system
11.4%
Abnormality of the digestive system
9.5%
Abnormality of metabolism homeostasis
9.3%
Abnormality of the immune system
6.1%
Abnormality of blood and blood forming tissues
5.2%
Abnormality of the respiratory system
4.8%
Abnormality of the endocrine system
4.5%
Neoplasm
3.9%
Abnormality of prenatal development or birth
3.1%
Constitutional symptom
1.3%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.5%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0%

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