Variant (rsID / SNP)

rs132630274

rs132630274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WAS. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

WASPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_000377.3(WAS):c.809T>C (p.Leu270Pro)
Allele change: Missense_L270P

Associated conditions / phenotypes

X-linked severe congenital neutropenia|Thrombocytopenia 1|Wiskott-Aldrich syndrome|X-linked severe congenital neutropenia

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.