rs137891079

This variant is located in the C9 gene.

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ClinVar annotation

Conflicting Classifications

2 submitters2 publications

not provided; Complement component 9 deficiency;Age related macular degeneration 15

About C9

This gene encodes the final component of the complement system. It 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 component C9 deficiency. [provided by RefSeq, Feb 2009]

View all C9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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