NM_014874.4(MFN2):c.2151G>A (p.Met717Ile) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001204607.8
Allele description [Variation Report for NM_014874.4(MFN2):c.2151G>A (p.Met717Ile)]
NM_014874.4(MFN2):c.2151G>A (p.Met717Ile)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
Tssr84547 AND (alive[prop]) (0)
Gene
-
LOC100806551 [Glycine max]
LOC100806551 [Glycine max]Gene ID:100806551Gene
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Last Updated: Feb 20, 2024