Variant (rsID / SNP)

rs200053524

rs200053524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXN1. Location: chromosome 17, position 26,862,138. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FOXN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:26862138
Cytoband: 17q11.2
HGVS: NM_001369369.1(FOXN1):c.1549G>T (p.Asp517Tyr)
Allele change: Missense_D517Y

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.