NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter) AND X-linked myopathy with postural muscle atrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001215729.5
Allele description [Variation Report for NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)]
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024