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NM_000101.3(CYBA):c.354C>A (p.Ser118Arg) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Significance: Pathogenic
ClinVar: RCV000002347

Variant: NM_000101.3(CYBA):c.354C>A (p.Ser118Arg)

Type: Variant
Allele: NM_000101.3(CYBA):c.354C>A (p.Ser118Arg) 17298
Gene:
Type: single nucleotide variant
Location: Chr16: 88712539 - assembly GRCh37
Chr16: 88646131 - assembly GRCh38
References: dbSNP: 104894514
OMIM: 608508.0004
UniProtKB/Swiss-Prot: VAR_005125
UniProtKB: P13498#VAR_005125

Condition

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

Citation

    In a patient with autosomal recessive cytochrome b-negative CGD (233690), whose parents were second cousins, Dinauer et al. (1990) found homozygosity for a 382C-A transversion, resulting in a ser118-to-arg (S118R) substitution.
PMID:2243141