NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000766090.2
Allele description [Variation Report for NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)]
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)
Condition(s)
- Name:
- Becker muscular dystrophy (BMD)
- Synonyms:
- Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
- Identifiers:
- MONDO: MONDO:0010311; MedGen: C0917713; Orphanet: 98895; OMIM: 300376
-
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Last Updated: Mar 16, 2024