Variant (rsID / SNP)

rs56270341

rs56270341 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAK3. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PAK3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_002578.5(PAK3):c.531G>A (p.Glu177=)
Allele change: Synonymous_E177E

Associated conditions / phenotypes

Intellectual disability, X-linked 30|History of neurodevelopmental disorder

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.