CYBA, 1-BP DEL, 272C AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
| Significance: | Pathogenic |
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| ClinVar: | RCV000002345 |
Variant: CYBA, 1-BP DEL, 272C |
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| Type: | Variant |
Allele: CYBA, 1-BP DEL, 272C 17296 |
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| Gene: | CYBA |
| Type: | Deletion |
| References: | OMIM:
608508.0002 |
Condition |
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| Disease: | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
Citation |
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In a patient with autosomal recessive cytochrome b-negative CGD (233690), Dinauer et al. (1990) found compound heterozygosity for 2 point mutations in the CYBA gene. One of them consisted of a single nucleotide deletion, 272C, resulting in a frameshift. The other was a 297G-A change, resulting in and arg90-to-gln (R90Q) substitution (608508.0003). The patient had previously been reported by Curnutte et al. (1987). PMID:2243141, PMID:3571224 |
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