NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser) AND X-linked myopathy with postural muscle atrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001927842.4
Allele description [Variation Report for NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)]
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024