Variant (rsID / SNP)
rs137872361
rs137872361 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXN1. Location: chromosome 17, position 26,864,164. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FOXN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:26864164
- Cytoband
- 17q11.2
- HGVS
- NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly)
- Allele change
- Missense_S553G
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.
