Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Tyr72His (p.Y72H)
(
ENST00000696162.1,
ENST00000696157.1,
ENST00000696161.1,
ENST00000696156.1,
ENST00000261623.8,
ENST00000696158.1,
ENST00000569359.5,
ENST00000696163.1,
ENST00000696159.1,
ENST00000567174.5,
ENST00000696160.1 )
CYBA p.Tyr72His (p.Y72H) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 ) - Associated Disease
- Very early onset inflammatory bowel disease
- Source Database
- ClinVar
- Description
- NM_000101.4(CYBA):c.214T>C (p.Tyr72His) AND Very early onset inflammatory bowel disease
- ClinVar Allele ID
- 17302
- ClinVar RefSeq Alternation Syntax
- NM_000101.4:c.214T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-11-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000736011
- ClinVar Disease
- Very early onset inflammatory bowel disease
- Observed Origin Sample
- inherited
Drugs