NM_181882.3(PRX):c.1500A>G (p.Ser500=) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000532474.12
Allele description [Variation Report for NM_181882.3(PRX):c.1500A>G (p.Ser500=)]
NM_181882.3(PRX):c.1500A>G (p.Ser500=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
-
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N-end-recognizing protein, UBR ubiquitin-protein ligase E3 Ubr1 [Schizosaccharomyces pombe]gi|162312265|ref|NP_596158.2|Protein
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Rattus norvegicus, OTSUKA clone, 585h12, microsatellite sequence, sequence tagge...
Rattus norvegicus, OTSUKA clone, 585h12, microsatellite sequence, sequence tagged sitegi|4632943|dbj|AU048308.1|Nucleotide
-
ILF2 interleukin enhancer binding factor 2 [Macaca mulatta]
ILF2 interleukin enhancer binding factor 2 [Macaca mulatta]Gene ID:715452Gene
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Last Updated: Sep 16, 2024