Variant (rsID / SNP)

rs122454130

rs122454130 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPS6KA3. Clinical significance in the table: Pathogenic.

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Reference-table entries

RPS6KA3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.12
HGVS: NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys)
Allele change: Missense_I189K

Associated conditions / phenotypes

Coffin-Lowry syndrome

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.