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Variant (rsID / SNP)

rs143532979

NCF4

rs143532979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF4. Location: chromosome 22, position 37,261,015. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NCF4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:37261015
Cytoband
22q12.3
HGVS
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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