rs375308014

This variant is located in the C1S gene.

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ClinVar annotation

Uncertain Significance★★★☆

3 submitters2 publications

Complement component C1s deficiency;Ehlers-Danlos syndrome, periodontal type 2; not provided; not specified

About C1S

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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