Variant (rsID / SNP)

rs56071149

rs56071149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF4. Location: chromosome 22, position 37,271,681. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NCF4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:37271681
Cytoband: 22q12.3
HGVS: NM_000631.5(NCF4):c.628-14C>A
Allele change: Silent

Associated conditions / phenotypes

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3

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.