NM_014874.4(MFN2):c.950C>G (p.Ala317Gly) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001045684.8
Allele description [Variation Report for NM_014874.4(MFN2):c.950C>G (p.Ala317Gly)]
NM_014874.4(MFN2):c.950C>G (p.Ala317Gly)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
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Corynebacterium sp. HMSC070H05 genomic scaffold Scaffold3, whole genome shotgun ...
Corynebacterium sp. HMSC070H05 genomic scaffold Scaffold3, whole genome shotgun sequencegi|1091409623|gnl|WGS:LTOW01|Scaffo b|KV833269.1|Nucleotide
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Corynebacterium sp. HMSC070H05 genomic scaffold Scaffold31, whole genome shotgun...
Corynebacterium sp. HMSC070H05 genomic scaffold Scaffold31, whole genome shotgun sequencegi|1091409594|gnl|WGS:LTOW01|Scaffo gb|KV833284.1|Nucleotide
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Last Updated: Sep 29, 2024