M1? variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
M1? in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes population frequency data, published literature, and structural context.
M1? variant details
- rs397516045
- ClinGen CA055236
- NCI-TCGA Cosmic COSV5703
- ClinVar RCV001313650
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)