Variant (rsID / SNP)

rs184758350

rs184758350 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL17RD. Location: chromosome 3, position 57,144,258. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

IL17RDConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:57144258
Cytoband: 3p14.3
HGVS: NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
Allele change: Silent

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 18 with anosmia|Delayed puberty

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.