NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del) AND Charcot-Marie-Tooth disease axonal type 2P
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003039390.2
Allele description [Variation Report for NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del)]
NM_001005373.4(LRSAM1):c.1921CCA[1] (p.Pro642del)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2P
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P; Charcot-Marie-Tooth disease type 2P; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G; See all synonyms [MedGen]
- Identifiers:
- Gene: 431712; MONDO: MONDO:0013753; MedGen: C3280797; Orphanet: 300319; Orphanet: 99941; OMIM: 614436
Assertion and evidence details
Last Updated: Feb 20, 2024