NM_000530.8(MPZ):c.319T>A (p.Trp107Arg) AND Charcot-Marie-Tooth disease
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001174317.1
Allele description [Variation Report for NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)]
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
Condition(s)
-
PREDICTED: C-terminal-binding protein 2-like [Leptosomus discolor]
PREDICTED: C-terminal-binding protein 2-like [Leptosomus discolor]gi|700412322|ref|XP_009960287.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022