Annotation Detail
Information
- Associated Genes
- PTGIS
- Associated Variants
-
PTGIS p.Leu256= (p.L256=)
(
ENST00000244043.5 )
PTGIS p.Leu256= (p.L256=) ( ENST00000244043.5 ) - Associated Disease
- PTGIS-related disorder
- Source Database
- ClinVar
- Description
- NM_000961.4(PTGIS):c.768G>A (p.Leu256=) AND PTGIS-related disorder
- ClinVar Allele ID
- 3199906
- ClinVar RefSeq Alternation Syntax
- NM_000961.4:c.768G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003973937
- ClinVar Disease
- PTGIS-related disorder
- Observed Origin Sample
- germline
Drugs