rs373463444
This variant is located in the C1R gene.
▶ClinVar annotation
About C1R
This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]
View all C1R variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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