Variant (rsID / SNP)

rs132630275

rs132630275 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.173C>G (p.Pro58Arg)
Allele change: Missense_P58R

Associated conditions / phenotypes

Thrombocytopenia, X-linked, intermittent

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.