S13C (p.Ser13Cys) variant of MYPN (Myopalladin)
S13C (p.Ser13Cys) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK. The record also includes population frequency data and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- rs775838889
- ClinGen CA5522208
- ClinVar RCV001894482
- ExAC rs775838889
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available