R39H (p.Arg39His) variant of ACTC1 (Actin, alpha cardiac muscle 1)
R39H (p.Arg39His) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of EBV-positive nodal T- and NK-cell lymphoma. The record also includes structural context.
R39H (p.Arg39His) variant details
- p.Arg39His
- rs2504185412
- NCI-TCGA Cosmic COSV5176
- ClinVar RCV004558097
- Likely benign
- EBV-positive nodal T- and NK-cell lymphoma
- Missense
- ClinVar: Likely benign (EBV-positive nodal T- and NK-cell lymphoma)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available