Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Pro189= (p.P189=)
(
ENST00000696159.1,
ENST00000696160.1,
ENST00000696163.1,
ENST00000261623.8,
ENST00000696156.1,
ENST00000696158.1,
ENST00000696157.1,
ENST00000696162.1,
ENST00000696161.1 )
CYBA p.Pro189= (p.P189=) ( ENST00000261623.8, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 ) - Associated Disease
- chronic granulomatous disease
- Source Database
- ClinVar
- Description
- NM_000101.4(CYBA):c.567G>A (p.Pro189=) AND Chronic granulomatous disease
- ClinVar Allele ID
- 844465
- ClinVar RefSeq Alternation Syntax
- NM_000101.4:c.567G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-01-17
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001271478
- ClinVar Disease
- Chronic granulomatous disease
- Observed Origin Sample
- germline
Drugs