Variant (rsID / SNP)

rs17849502

rs17849502 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF2. Location: chromosome 1, position 183,532,580. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NCF2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:183532580
Cytoband: 1q25.3
HGVS: NM_000433.4(NCF2):c.1167C>A (p.His389Gln)
Allele change: Missense_H389Q

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.