rs121908167

This is a variant in the ALX3 gene that changes a leucine to an valine.

ClinVar annotation

Pathogenic
1 submitter2 publications

Frontorhiny (FND1)

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About ALX3

This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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rs121908167 (ALX3) — Gene Wizard