NM_000530.8(MPZ):c.386T>G (p.Val129Gly) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002005361.4
Allele description [Variation Report for NM_000530.8(MPZ):c.386T>G (p.Val129Gly)]
NM_000530.8(MPZ):c.386T>G (p.Val129Gly)
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
-
Mus musculus OCIA domain containing 2, mRNA (cDNA clone MGC:51598 IMAGE:4971755)...
Mus musculus OCIA domain containing 2, mRNA (cDNA clone MGC:51598 IMAGE:4971755), complete cdsgi|27924165|gb|BC044883.1|Nucleotide
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Last Updated: Sep 29, 2024