Variant (rsID / SNP)

rs41529049

rs41529049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL17RA. Location: chromosome 22, position 17,589,602. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IL17RAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 22:17589602
Cytoband: 22q11.1
HGVS: NM_014339.7(IL17RA):c.1493C>T (p.Thr498Ile)
Allele change: Missense_T498I

Associated conditions / phenotypes

Immunodeficiency 51

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.