NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001051343.6
Allele description [Variation Report for NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser)]
NM_001370298.3(FGD4):c.2030T>G (p.Ile677Ser)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
TPA: Homo sapiens microRNA hsa-mir-219a-1 precursor
TPA: Homo sapiens microRNA hsa-mir-219a-1 precursorgi|667476993|tpe|LM608365.1|Nucleotide
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Last Updated: Feb 28, 2024