Annotation Detail
Information
- Associated Genes
- PACS1
- Associated Variants
-
PACS1 p.Arg203Trp (p.R203W)
(
ENST00000320580.9 )
PACS1 p.Arg203Trp (p.R203W) ( ENST00000320580.9 ) - Source Database
- ClinVar
- Description
- NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) AND See cases
- ClinVar Allele ID
- 48180
- ClinVar RefSeq Alternation Syntax
- NM_018026.4:c.607C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-12-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002251940
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
Drugs