NM_006158.4(NEFL):c.*1256G>A AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000311138.1
Allele description
NM_006158.4(NEFL):c.*1256G>A
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
-
XM_0170106341 (0)
Nucleotide
-
NM_0013216171 (0)
Nucleotide
-
Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript va...
Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 2, mRNAgi|297374783|ref|NM_004309.4|Nucleotide
-
Acyl transferase [Actinosynnema mirum DSM 43827]
Acyl transferase [Actinosynnema mirum DSM 43827]gi|255922454|gnl|jgi|Amir_4110|gb|A 65.1|Protein
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Yersinia enterocolitica strain Y286, whole genome shotgun sequence
Yersinia enterocolitica strain Y286, whole genome shotgun sequencegi|912943333|ref|NZ_CPYO01000063.1|Nucleotide
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Last Updated: Mar 28, 2021