NM_000098.3(CPT2):c.-117G>T AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000260538.5
Allele description [Variation Report for NM_000098.3(CPT2):c.-117G>T]
NM_000098.3(CPT2):c.-117G>T
Condition(s)
- Name:
- Carnitine palmitoyltransferase II deficiency (CPT2)
- Synonyms:
- Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2
- Identifiers:
- MONDO: MONDO:0015515; MedGen: C0342790
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Homo sapiens zinc finger protein 36, C3H type-like 1, mRNA (cDNA clone MGC:9372 ...
Homo sapiens zinc finger protein 36, C3H type-like 1, mRNA (cDNA clone MGC:9372 IMAGE:3860353), complete cdsgi|17390793|gb|BC018340.1|Nucleotide
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Taxonomy Links for BioSample (Select 18753881) (1)
Taxonomy
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MAG: Candidatus Jordarchaeia archaeon isolate B4_G2, whole genome shotgun sequen...
MAG: Candidatus Jordarchaeia archaeon isolate B4_G2, whole genome shotgun sequencing projectgi|2496059990|gb|JAHKKU000000000.1| U010000000Nucleotide
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Enterobacillus tribolii strain IG-V01 Edena_Kmer47_Final_Assembly_3, whole genom...
Enterobacillus tribolii strain IG-V01 Edena_Kmer47_Final_Assembly_3, whole genome shotgun sequencegi|2085925455|ref|NZ_SDGT01000003.1 |WGS:NZ_SDGT01|Edena_Kmer47_Final_Assembly_3Nucleotide
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Uromyces vignae (1)
Taxonomy
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Last Updated: Oct 14, 2023