Variant (rsID / SNP)

rs119103274

rs119103274 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NCF2. Location: chromosome 1, position 183,543,740. Clinical significance in the table: Pathogenic.

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Reference-table entries

NCF2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:183543740
Cytoband: 1q25.3
HGVS: NM_000433.4(NCF2):c.383C>T (p.Ala128Val)
Allele change: Missense_A128V

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.