C61Y (p.Cys61Tyr) variant of CSRP3 (P50461)
C61Y (p.Cys61Tyr) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M. The record also includes published literature and structural context.
C61Y (p.Cys61Tyr) variant details
- p.Cys61Tyr
- rs2494223507
- ClinGen CA379888313
- ClinVar RCV003807400
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)