rs760277934

This is a variant in the C1R gene that changes a arginine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆

3 submitters2 publications

Ehlers-Danlos syndrome, periodontal type 1; Ehlers-Danlos syndrome, periodontal type 2

About C1R

This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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