K39R (p.Lys39Arg) variant of TNNC1 (P63316)
K39R (p.Lys39Arg) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z. The record also includes published literature and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- rs2471444659
- ClinGen CA353168964
- ClinVar RCV002329852
- ClinVar RCV003775845
- Uncertain significance
- not provided; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z
- Missense
- ClinVar: Uncertain significance (not provided; Hypertrophic cardiomyopathy 13; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)