NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000654188.6
Allele description [Variation Report for NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)]
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
Valproic acid targets IDH1 mutants through alteration of lipid metabolism [2020]
Valproic acid targets IDH1 mutants through alteration of lipid metabolism [2020]Valproic acid targets IDH1 mutants through alteration of lipid metabolism [2020]BioProject
-
Pig 2020
Pig 2020Pig 2020BioProject
-
methyl-thioribose-1-phosphate isomerase [Escherichia coli S88]
methyl-thioribose-1-phosphate isomerase [Escherichia coli S88]gi|218368232|emb|CAR06048.1|Protein
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Last Updated: Sep 29, 2024