rs868443961
This variant is located in the FOXN1 gene.
▶ClinVar annotation
T-cell immunodeficiency, congenital alopecia, and nail dystrophy; Inborn genetic diseases
View on ClinVar →About FOXN1
Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]
View all FOXN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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