NM_170707.4(LMNA):c.1089G>A (p.Leu363=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003582751.1
Allele description [Variation Report for NM_170707.4(LMNA):c.1089G>A (p.Leu363=)]
NM_170707.4(LMNA):c.1089G>A (p.Leu363=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
TLR9 toll like receptor 9 [Homo sapiens]
TLR9 toll like receptor 9 [Homo sapiens]Gene ID:54106Gene
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Gene Links for GEO Profiles (Select 68870280) (1)
Gene
-
Profile neighbors for GEO Profiles (Select 68847372) (110)
GEO Profiles
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Related DataSets for GEO Profiles (Select 68852660) (1)
GEO DataSets
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Fetal and adult reticulocytes
Fetal and adult reticulocytesAccession: GDS3814GEO DataSets
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024