NM_030973.4(MED25):c.679G>A (p.Val227Met) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000696026.6
Allele description [Variation Report for NM_030973.4(MED25):c.679G>A (p.Val227Met)]
NM_030973.4(MED25):c.679G>A (p.Val227Met)
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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Profile neighbors for GEO Profiles (Select 118870700) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 118860790) (19)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 118854946) (18)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 118857396) (20)
GEO Profiles
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TSPAN4 tetraspanin 4 [Homo sapiens]
TSPAN4 tetraspanin 4 [Homo sapiens]Gene ID:7106Gene
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Last Updated: May 1, 2024