NM_005572.3(LMNA):c.-210T>C AND Charcot-Marie-Tooth disease type 2B1
- 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:
- RCV000329086.14
Allele description [Variation Report for NM_005572.3(LMNA):c.-210T>C]
NM_005572.3(LMNA):c.-210T>C
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
- Synonyms:
- CMT 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011569; MedGen: C1854154; Orphanet: 98856; OMIM: 605588
-
ataxin-2-like protein isoform X26 [Oryctolagus cuniculus]
ataxin-2-like protein isoform X26 [Oryctolagus cuniculus]gi|2327254434|ref|XP_051703587.1|Protein
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Last Updated: May 26, 2024