T7N (p.Thr7Asn) variant of ACTC1 (Actin, alpha cardiac muscle 1)
T7N (p.Thr7Asn) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The record also includes structural context.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- rs2504185703
- ClinGen CA391633450
- NCI-TCGA Cosmic COSV9929
- ClinVar RCV004016058
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available