Variant (rsID / SNP)

rs193922446

rs193922446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYBB. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYBBLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Cytoband: Xp21.1
HGVS: NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer)

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.