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Variant (rsID / SNP)

rs114610092

CYBA

rs114610092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYBA. Location: chromosome 16, position 88,709,946. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CYBAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:88709946
Cytoband
16q24.2
HGVS
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys)
Allele change
Missense_E135K

Associated conditions / phenotypes

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.