Variant (rsID / SNP)

rs2274064

rs2274064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF2. Location: chromosome 1, position 183,542,387. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NCF2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:183542387
Cytoband: 1q25.3
HGVS: NM_000433.4(NCF2):c.542A>G (p.Lys181Arg)
Allele change: Missense_K181R

Associated conditions / phenotypes

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

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.