Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Ser118Arg (p.S118R)
(
ENST00000696156.1,
ENST00000261623.8,
ENST00000696158.1,
ENST00000569359.5,
ENST00000696162.1,
ENST00000696157.1,
ENST00000696161.1,
ENST00000696159.1,
ENST00000567174.5,
ENST00000696160.1,
ENST00000696163.1 )
CYBA p.Ser118Arg (p.S118R) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 ) - Associated Disease
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Source Database
- ClinVar
- Description
- NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- ClinVar Allele ID
- 17298
- ClinVar RefSeq Alternation Syntax
- NM_000101.4:c.354C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2024-01-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000002347
- ClinVar Disease
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Observed Origin Sample
- germline
- Pubmed
- 2243141
Drugs