Variant (rsID / SNP)

rs132630269

rs132630269 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WAS. Clinical significance in the table: Pathogenic.

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Reference-table entries

WASPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_000377.3(WAS):c.167C>T (p.Ala56Val)
Allele change: Missense_A56V

Associated conditions / phenotypes

Thrombocytopenia 1|Wiskott-Aldrich 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.