NM_014874.4(MFN2):c.1442G>A (p.Arg481His) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001857799.3
Allele description [Variation Report for NM_014874.4(MFN2):c.1442G>A (p.Arg481His)]
NM_014874.4(MFN2):c.1442G>A (p.Arg481His)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2 [Mus musculus]
mitotic checkpoint serine/threonine-protein kinase BUB1 isoform 2 [Mus musculus]gi|163937847|ref|NP_033902.2|Protein
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024