NM_000098.3(CPT2):c.1485G>A (p.Lys495=) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741024.1
Allele description [Variation Report for NM_000098.3(CPT2):c.1485G>A (p.Lys495=)]
NM_000098.3(CPT2):c.1485G>A (p.Lys495=)
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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yj36a04.s1 Soares placenta Nb2HP Homo sapiens cDNA clone IMAGE:150798 3', mRNA sequencegi|865483|gnl|dbEST|262430|gb|H0255Nucleotide
-
yq04e01.s1 Soares fetal liver spleen 1NFLS Homo sapiens cDNA clone IMAGE:195960 ...
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-
NADH dehydrogenase subunit 4, partial (mitochondrion) [Andinosaura vespertina]
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-
kinesin-like protein [Nannochloropsis gaditana]
kinesin-like protein [Nannochloropsis gaditana]gi|585109824|gb|EWM27557.1||gnl|WGS |Naga_100015g7.6373Protein
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Last Updated: Feb 28, 2024