Variant (rsID / SNP)

rs137854593

rs137854593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYBB. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYBBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_000397.4(CYBB):c.1499A>G (p.Asp500Gly)
Allele change: Missense_D500G

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.