NM_004006.3(DMD):c.5048del (p.Thr1683fs) AND Duchenne muscular dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003512202.2
Allele description [Variation Report for NM_004006.3(DMD):c.5048del (p.Thr1683fs)]
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024