NM_004006.3(DMD):c.5950G>A (p.Val1984Met) AND Duchenne muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003513427.2
Allele description [Variation Report for NM_004006.3(DMD):c.5950G>A (p.Val1984Met)]
NM_004006.3(DMD):c.5950G>A (p.Val1984Met)
Condition(s)
-
protein aim19 [Schizosaccharomyces pombe]
protein aim19 [Schizosaccharomyces pombe]gi|19112376|ref|NP_595584.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024