NM_000530.8(MPZ):c.316C>T (p.Arg106Cys) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001061577.5
Allele description [Variation Report for NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)]
NM_000530.8(MPZ):c.316C>T (p.Arg106Cys)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type I (CMT1)
- Synonyms:
- Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
- Identifiers:
- MONDO: MONDO:0019011; MedGen: C0751036
-
Homo sapiens tetraspanin 3, mRNA (cDNA clone MGC:17513 IMAGE:3457158), complete ...
Homo sapiens tetraspanin 3, mRNA (cDNA clone MGC:17513 IMAGE:3457158), complete cdsgi|15029947|gb|BC011206.1|Nucleotide
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Last Updated: May 1, 2024