NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser) AND Charcot-Marie-Tooth disease type 1C
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000034130.4
Allele description [Variation Report for NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser)]
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 1C
- Synonyms:
- CMT, SLOW NERVE CONDUCTION TYPE C; HMSN IC; CMT 1C; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010995; MedGen: C0270913; Orphanet: 101083; OMIM: 601098
Assertion and evidence details
Last Updated: Oct 8, 2022