NM_000252.3(MTM1):c.153_156del (p.Ile52fs) AND Severe X-linked myotubular myopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146427.6
Allele description [Variation Report for NM_000252.3(MTM1):c.153_156del (p.Ile52fs)]
NM_000252.3(MTM1):c.153_156del (p.Ile52fs)
Condition(s)
Assertion and evidence details
Last Updated: Jan 26, 2024