rs76202909

This is a splice region variant variant in the C6 gene.

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ClinVar annotation

Pathogenic★☆☆☆

21 submitters9 publications

C6 deficiency, subtotal; C6-related disorder; Complement component 6 deficiency (C6D); not specified

About C6

This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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