Phenotypic Mutations

1 mutations affecting 1 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
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Verification Probability

Phenotypic Category

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1 UTSW Nlrp3 0.101 Park8 11 59541568-59566956 bp (+) 59566199 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.814 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
G ⇒ C missense probably benign 0.195
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