Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Leu52Pro (p.L52P)
(
ENST00000696163.1,
ENST00000696159.1,
ENST00000567174.5,
ENST00000696160.1,
ENST00000696162.1,
ENST00000696157.1,
ENST00000696161.1,
ENST00000696156.1,
ENST00000261623.8,
ENST00000696158.1,
ENST00000569359.5 )
CYBA p.Leu52Pro (p.L52P) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) AND not provided
- ClinVar Allele ID
- 79100
- ClinVar RefSeq Alternation Syntax
- NM_000101.4:c.155T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-05-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059042
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs