NM_018972.4(GDAP1):c.966G>A (p.Thr322=) AND Charcot-Marie-Tooth disease type 4A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003835091.1
Allele description [Variation Report for NM_018972.4(GDAP1):c.966G>A (p.Thr322=)]
NM_018972.4(GDAP1):c.966G>A (p.Thr322=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4A
- Synonyms:
- Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4a; Charcot-Marie-Tooth Neuropathy Type 4A
- Identifiers:
- MONDO: MONDO:0008961; MedGen: C1859198; Orphanet: 99948; OMIM: 214400
Assertion and evidence details
Last Updated: Mar 5, 2024