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Variant (rsID / SNP)

rs267606912

NCF2

rs267606912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF2. Location: chromosome 1, position 183,543,644. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

NCF2Other
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
1:183543644
Cytoband
1q25.3
HGVS
NM_000433.4(NCF2):c.479A>T (p.Asp160Val)
Allele change
Missense_D160V

Associated conditions / phenotypes

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Public references

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