Variant (rsID / SNP)

rs145040665

rs145040665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WAS. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

WASConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_000377.3(WAS):c.538C>A (p.His180Asn)
Allele change: Missense_H180N

Associated conditions / phenotypes

Thrombocytopenia 1|X-linked severe congenital neutropenia|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.