Variant (rsID / SNP)

rs2072712

rs2072712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF4. Location: chromosome 22, position 37,271,802. Clinical significance in the table: Benign.

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Reference-table entries

NCF4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:37271802
Cytoband: 22q12.3
HGVS: NM_000631.5(NCF4):c.735C>T (p.Tyr245=)
Allele change: Synonymous_Y245Y

Associated conditions / phenotypes

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

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.