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Variant (rsID / SNP)

rs147744729

NCF2

rs147744729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF2. Location: chromosome 1, position 183,532,666. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NCF2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:183532666
Cytoband
1q25.3
HGVS
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser)
Allele change
Missense_T361S

Associated conditions / phenotypes

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Public references

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