NM_000304.4(PMP22):c.344C>T (p.Ala115Val) AND Hereditary liability to pressure palsies
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001122567.4
Allele description [Variation Report for NM_000304.4(PMP22):c.344C>T (p.Ala115Val)]
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
Condition(s)
- Name:
- Hereditary liability to pressure palsies (HNPP)
- Synonyms:
- Hereditary neuropathy with liability to pressure palsy; Polyneuropathy, familial recurrent; Tomaculous neuropathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008087; MedGen: C0393814; Orphanet: 640; OMIM: 162500
Assertion and evidence details
Last Updated: Mar 5, 2024