Variant (rsID / SNP)

rs4673

rs4673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYBA. Location: chromosome 16, position 88,713,236. Clinical significance in the table: Benign.

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Reference-table entries

CYBABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:88713236
Cytoband: 16q24.2
HGVS: NM_000101.4(CYBA):c.214T>C (p.Tyr72His)
Allele change: Missense_Y72H

Associated conditions / phenotypes

CYBA POLYMORPHISM|Very early onset inflammatory bowel disease|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|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.