NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 31, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001309895.7
Allele description [Variation Report for NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)]
NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
Assertion and evidence details
Last Updated: Feb 28, 2024