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NM_000265.5(NCF1):c.811delG (p.Val271Serfs) AND Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1

Significance: Pathogenic
ClinVar: RCV000002340

Variant: NM_000265.5(NCF1):c.811delG (p.Val271Serfs)

Type: Variant
Allele: NM_000265.5(NCF1):c.811delG (p.Val271Serfs) 17291
Gene:
Type: Deletion
Location: Chr7: 74787994 - assembly GRCh38
Chr7: 74202338 - assembly GRCh37
References: OMIM: 608512.0004

Condition

Disease: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1

Citation

    For discussion of the 1-bp deletion in the NCF1 gene that was found in compound heterozygous state in a patient with autosomal recessive chronic granulomatous disease (CGD; 233700) by Noack et al. (2001), see 608512.0003.
PMID:11133775