NM_170707.4(LMNA):c.11C>T (p.Pro4Leu) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001896572.6
Allele description [Variation Report for NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)]
NM_170707.4(LMNA):c.11C>T (p.Pro4Leu)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
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MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacterium
MIMAG Metagenome-assembled Genome sample from Acidobacteriota bacteriumbiosample
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protein tyrosine phosphatase type IVA 3 isoform 1 [Mus musculus]
protein tyrosine phosphatase type IVA 3 isoform 1 [Mus musculus]gi|31543527|ref|NP_033001.2|Protein
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Profile neighbors for GEO Profiles (Select 120951611) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 120976946) (199)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 120950885) (199)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024