NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
| Significance: | Pathogenic |
|---|---|
| ClinVar: | RCV000002352 |
Variant: NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) |
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| Type: | Variant |
Allele: NM_000101.4(CYBA):c.7C>T (p.Gln3Ter) 17303 |
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| Gene: | CYBA |
| Type: | single nucleotide variant |
| Location: |
Chr16: 88717415
- assembly
GRCh37 Chr16: 88651007 - assembly GRCh38 |
| References: | dbSNP:
104894511 OMIM: 608508.0009 |
Condition |
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| Disease: | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
Citation |
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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 |
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