S42P (p.Ser42Pro) variant of TNNI3 (Troponin I, cardiac muscle)
S42P (p.Ser42Pro) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 7. The record also includes published literature and structural context.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- rs2515502440
- ClinGen CA407442439
- ClinVar RCV003314308
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 7
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)