NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000693444.8
Allele description [Variation Report for NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg)]
NM_014874.4(MFN2):c.2218T>A (p.Trp740Arg)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
unnamed protein product, partial [Human ORFeome Gateway entry vector]
unnamed protein product, partial [Human ORFeome Gateway entry vector]gi|1147686528|emb|SJX35168.1|Protein
-
Chain I, HIRUDIN VARIANT-2
Chain I, HIRUDIN VARIANT-2gi|112490125|pdb|2C90|IProtein
-
MIR935 [Sus scrofa]
MIR935 [Sus scrofa]Gene ID:100498743Gene
-
rbm47 RNA binding motif protein 47 [Xenopus tropicalis]
rbm47 RNA binding motif protein 47 [Xenopus tropicalis]Gene ID:100216039Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024