Variant (rsID / SNP)

rs139670417

rs139670417 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYBB. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CYBBBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_000397.4(CYBB):c.686G>A (p.Arg229His)
Allele change: Missense_R229H

Associated conditions / phenotypes

Granulomatous disease, chronic, X-linked|Chronic granulomatous disease

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.