Variant (rsID / SNP)

rs142199303

rs142199303 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL17RA. Location: chromosome 22, position 17,581,286. 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: 22:17581286
Cytoband: 22q11.1
HGVS: NM_014339.7(IL17RA):c.465G>C (p.Gln155His)
Allele change: Missense_Q155H

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.