Annotation Detail
Information
- Associated Genes
- CYP3A5 ZSCAN25
- Associated Variants
-
NM_000777.5(CYP3A5):c.219-237A>G AND Hypertension, salt-sensitive essential, susceptibility to
CYP3A5 c.219-237A>G ( ENST00000222982.8, ENST00000439761.3 ) - Associated Disease
- refractory myasthenia gravis
- Source Database
- ClinVar
- Description
- NM_000777.5(CYP3A5):c.219-237A>G AND refractory myasthenia gravis
- ClinVar Allele ID
- 20105
- ClinVar RefSeq Alternation Syntax
- NM_001291829.2:c.-253-1A>G
- ClinVar RefSeq Alternation Syntax
- NM_001190484.3:c.219-237A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291830.2:c.189-237A>G
- ClinVar RefSeq Alternation Syntax
- NM_000777.5:c.219-237A>G
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2022-03-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002227926
- ClinVar Disease
- refractory myasthenia gravis
- Observed Origin Sample
- inherited
Drugs