Variant (rsID / SNP)

rs200474454

rs200474454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAK3. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PAK3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly)
Allele change: Missense_S527G

Associated conditions / phenotypes

Intellectual disability, X-linked 30

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.