rs780658153

This variant is located in the C1QC gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Inborn genetic diseases

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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