NM_000530.8(MPZ):c.301dup (p.Trp101fs) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741319.1
Allele description [Variation Report for NM_000530.8(MPZ):c.301dup (p.Trp101fs)]
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease, type I (CMT1)
- Synonyms:
- Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
- Identifiers:
- MONDO: MONDO:0019011; MedGen: C0751036
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txid1521447[orgn] AND "specimen-voucher IDRCG078-13 BRLU NB0590"[... (2)
txid1521447[orgn] AND "specimen-voucher IDRCG078-13 BRLU NB0590"[All Fields]SearchProtein
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Homo sapiens chromosome 12, GRCh38.p14 Primary Assembly
Homo sapiens chromosome 12, GRCh38.p14 Primary Assemblygi|568815586|gnl|ASM:GCF_000001305| f|NC_000012.12||gpp|GPC_000001304.1||gnl|NCBI_GENOMES|12Nucleotide
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Homologene neighbors for GEO Profiles (Select 122086139) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 122074547) (34)
GEO Profiles
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C21orf91-OT1 C21orf91 overlapping transcript 1 [Homo sapiens]
C21orf91-OT1 C21orf91 overlapping transcript 1 [Homo sapiens]Gene ID:246312Gene
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Last Updated: May 1, 2024