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
not provided
Source Database
ClinVar
Description
NM_001126049.2(KLLN):c.382C>G (p.Arg128Gly) AND not provided
ClinVar Allele ID
1164372
ClinVar RefSeq Alternation Syntax
NM_001126049.2:c.382C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2023-11-01
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001573838
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs