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Variant (rsID / SNP)

rs34814444

FOXN1

rs34814444 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXN1. Location: chromosome 17, position 26,862,145. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FOXN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:26862145
Cytoband
17q11.2
HGVS
NM_001369369.1(FOXN1):c.1556T>A (p.Leu519Gln)
Allele change
Missense_L519Q

Associated conditions / phenotypes

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Public references

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