NM_000397.4(CYBB):c.1151+6T>A AND Granulomatous disease, chronic, X-linked
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003329128.2
Allele description [Variation Report for NM_000397.4(CYBB):c.1151+6T>A]
NM_000397.4(CYBB):c.1151+6T>A
Condition(s)
-
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X2 [Camelus bactr...
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X2 [Camelus bactrianus]gi|2165516871|ref|XP_045373135.1|Protein
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Last Updated: Sep 30, 2023