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NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

Significance: Pathogenic
ClinVar: RCV000002333

Variant: NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del)

Type: Variant
Allele: NM_000433.3(NCF2):c.55_63delAAGAAGGAC (p.Lys19_Asp21del) 17284
Gene:
Type: Deletion
Location: Chr1: 183559402 - 183559410 - assembly GRCh37
Chr1: 183590267 - 183590275 - assembly GRCh38
References: dbSNP: 796065033
OMIM: 608515.0006

Condition

Disease: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2

Citation

    In a 16-year-old girl with chronic granulomatous disease (233710), the offspring of unrelated parents who were natives of Mexico, Patino et al. (1999) found compound heterozygosity for a 9-bp deletion (AAGAAGGAC) involving nucleotides 55-63 in exon 2 of the NCF2 gene, predicting elimination of lys19/lys20/asp21 from the NCF2 protein. The maternal allele also contained a C-to-T transition at nucleotide 1183 in exon 14, resulting in an arg395-to-trp mutation (R395W; 608515.0010). The mother was heterozygous for these mutations. The allele from the father had an IVS4DS+1G-A mutation (608515.0005).
PMID:10498624