Variant (rsID / SNP)

rs28935171

rs28935171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPS6KA3. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RPS6KA3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.12
HGVS: NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
Allele change: Missense_R729Q

Associated conditions / phenotypes

Coffin-Lowry syndrome|Inborn genetic diseases|Intellectual disability

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.