Variant (rsID / SNP)

rs12449554

rs12449554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXN1. Location: chromosome 17, position 26,857,788. Clinical significance in the table: Benign.

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Reference-table entries

FOXN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:26857788
Cytoband: 17q11.2
HGVS: NM_001369369.1(FOXN1):c.852T>C (p.Leu284=)
Allele change: Synonymous_L284L

Associated conditions / phenotypes

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.