NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser) AND Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003447186.1
Allele description [Variation Report for NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)]
NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)
Condition(s)
- Name:
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K
- Identifiers:
- MONDO: MONDO:0020558; MedGen: C1842984
Assertion and evidence details
Last Updated: Dec 17, 2023