NM_000399.5(EGR2):c.925G>C (p.Ala309Pro) AND Charcot-Marie-Tooth disease, type I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741048.1
Allele description [Variation Report for NM_000399.5(EGR2):c.925G>C (p.Ala309Pro)]
NM_000399.5(EGR2):c.925G>C (p.Ala309Pro)
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
-
long-chain-fatty-acid--CoA ligase 1 isoform X1 [Vicugna pacos]
long-chain-fatty-acid--CoA ligase 1 isoform X1 [Vicugna pacos]gi|970702926|ref|XP_015104514.1|Protein
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PREDICTED: Homo sapiens Cas scaffold protein family member 4 (CASS4), transcript...
PREDICTED: Homo sapiens Cas scaffold protein family member 4 (CASS4), transcript variant X1, mRNAgi|2217335652|ref|XM_006723831.4|Nucleotide
-
Homo sapiens cDNA clone IMAGE:5259366, containing frame-shift errors
Homo sapiens cDNA clone IMAGE:5259366, containing frame-shift errorsgi|29881664|gb|BC051190.1|Nucleotide
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PREDICTED: Mus musculus ubiquitin specific peptidase 48 (Usp48), transcript vari...
PREDICTED: Mus musculus ubiquitin specific peptidase 48 (Usp48), transcript variant X5, mRNAgi|1039766800|ref|XM_017320009.1|Nucleotide
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Last Updated: Feb 28, 2024