NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) AND Early-onset myopathy with fatal cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000260165.5
Allele description [Variation Report for NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr)]
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2024