Q44H (p.Gln44His) variant of TTN (Titin)
Q44H (p.Gln44His) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes published literature.
Q44H (p.Gln44His) variant details
- p.Gln44His
- rs751250111
- ClinGen CA349531394
- ClinVar RCV003487120
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)