Variant (rsID / SNP)

rs121434613

rs121434613 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAK3. Clinical significance in the table: Pathogenic.

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Reference-table entries

PAK3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu)
Allele change: Missense_A365E

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.