Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Ala124Val (p.A124V)
(
ENST00000261623.8,
ENST00000696156.1,
ENST00000696157.1,
ENST00000696158.1,
ENST00000696159.1,
ENST00000696160.1,
ENST00000696161.1,
ENST00000696162.1,
ENST00000696163.1 )
CYBA p.Ala124Val (p.A124V) ( 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.371C>T (p.Ala124Val) AND Chronic granulomatous disease
- ClinVar Allele ID
- 79103
- ClinVar RefSeq Alternation Syntax
- NM_000101.4:c.371C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-03-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004526610
- ClinVar Disease
- Chronic granulomatous disease
- Observed Origin Sample
- germline
Drugs