Variant (rsID / SNP)

rs193922414

rs193922414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WAS. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

WASLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_000377.3(WAS):c.310C>T (p.Gln104Ter)
Allele change: Nonsense_Q104X

Associated conditions / phenotypes

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.