rs41271067

This variant is located in the C6 gene.

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ClinVar annotation

Likely Benign★★★☆
7 submitters2 publications

not provided; Complement component 6 deficiency; C6-related disorder; Melanoma; Hepatocellular carcinoma; Cholangiocarcinoma; Clear cell carcinoma of kidney; not specified

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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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