rs1035864750
This variant is located in the SERPING1 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout SERPING1
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]
View all SERPING1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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