NM_030973.4(MED25):c.633A>G (p.Thr211=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001465742.13
Allele description [Variation Report for NM_030973.4(MED25):c.633A>G (p.Thr211=)]
NM_030973.4(MED25):c.633A>G (p.Thr211=)
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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Chromosome neighbors for GEO Profiles (Select 116812139) (20)
GEO Profiles
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Taxonomy Links for GEO Profiles (Select 116802183) (1)
Taxonomy
-
C11orf40 chromosome 11 putative open reading frame 40 [Homo sapiens]
C11orf40 chromosome 11 putative open reading frame 40 [Homo sapiens]Gene ID:143501Gene
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Gene Links for GEO Profiles (Select 116800159) (1)
Gene
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Related DataSets for GEO Profiles (Select 116791376) (1)
GEO DataSets
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Last Updated: Oct 13, 2024