Annotation Detail
Information
- Associated Genes
- PPM1D
- Associated Variants
-
PPM1D p.Thr517Ile (p.T517I)
(
ENST00000305921.8 )
PPM1D p.Thr517Ile (p.T517I) ( ENST00000305921.8 ) - Associated Disease
- PPM1D-related disorder
- Source Database
- ClinVar
- Description
- NM_003620.4(PPM1D):c.1550C>T (p.Thr517Ile) AND PPM1D-related disorder
- ClinVar Allele ID
- 684702
- ClinVar RefSeq Alternation Syntax
- NM_003620.4:c.1550C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-08-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003908179
- ClinVar Disease
- PPM1D-related disorder
- Observed Origin Sample
- germline
Drugs