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NM_000101.3(CYBA):c.7C>T (p.Gln3Ter) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Significance: Pathogenic
ClinVar: RCV000002352

Variant: NM_000101.3(CYBA):c.7C>T (p.Gln3Ter)

Type: Variant
Allele: NM_000101.3(CYBA):c.7C>T (p.Gln3Ter) 17303
Gene:
Type: single nucleotide variant
Location: Chr16: 88717415 - assembly GRCh37
Chr16: 88651007 - assembly GRCh38
References: dbSNP: 104894511
OMIM: 608508.0009

Condition

Disease: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Citation

    In a 33-year-old Japanese woman with cytochrome b-negative CGD (233690), Yamada et al. (2000) demonstrated homozygosity for a nonsense mutation in exon 1 of the CYBA gene.
PMID:10759707