NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000002347 |
Variant: NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) |
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| Type: | Variant |
Allele: NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) 17298 |
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| Gene: | CYBA |
| 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 |
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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), 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 |
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