rs2101216885
This variant is located in the C8A gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout C8A
C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008]
View all C8A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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