NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=) AND Charcot-Marie-Tooth disease axonal type 2P
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001168522.18
Allele description [Variation Report for NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)]
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
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: Apr 20, 2024