Annotation Detail
Information
- Associated Genes
- PTEN KLLN
- Associated Variants
-
KLLN p.Arg128Gly (p.R128G)
(
ENST00000445946.5 )
KLLN p.Arg128Gly (p.R128G) ( ENST00000445946.5 ) - Associated Disease
- KLLN-related disorder
- Source Database
- ClinVar
- Description
- NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) AND KLLN-related disorder
- ClinVar Allele ID
- 1164372
- ClinVar RefSeq Alternation Syntax
- NM_001126049.2:c.382C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003921185
- ClinVar Disease
- KLLN-related disorder
- Observed Origin Sample
- germline
Drugs