rs144395191

This variant is located in the DEF6 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Immunodeficiency 87 and autoimmunity; not specified

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About DEF6

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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