NM_006096.4(NDRG1):c.743C>T (p.Thr248Ile) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 20, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001279785.1
Allele description [Variation Report for NM_006096.4(NDRG1):c.743C>T (p.Thr248Ile)]
NM_006096.4(NDRG1):c.743C>T (p.Thr248Ile)
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: Mar 26, 2023