Variant (rsID / SNP)

rs193922445

rs193922445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYBB. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CYBBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Duplication
Cytoband: Xp11.4
HGVS: NM_000397.4(CYBB):c.1140dup (p.Lys381fs)

Associated conditions / phenotypes

Granulomatous disease, chronic, X-linked

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.