rs752596663
This is a variant in the C1QC gene that changes a glycine to an serine.
▶ClinVar annotation
About C1QC
This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
View all C1QC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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