NM_030973.4(MED25):c.651G>A (p.Pro217=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002527936.10
Allele description [Variation Report for NM_030973.4(MED25):c.651G>A (p.Pro217=)]
NM_030973.4(MED25):c.651G>A (p.Pro217=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
LOC613038 [Homo sapiens]
LOC613038 [Homo sapiens]Gene ID:613038Gene
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Last Updated: Oct 13, 2024