rs545430645

This variant is located in the UNC13D gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters2 publications

Familial hemophagocytic lymphohistiocytosis 3; Autoinflammatory syndrome

About UNC13D

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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