Variant (rsID / SNP)

rs122461161

rs122461161 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL1RAPL1. Clinical significance in the table: Pathogenic.

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Reference-table entries

IL1RAPL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.2
HGVS: NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)
Allele change: Nonsense_W487X

Associated conditions / phenotypes

Intellectual disability, X-linked 21

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.