NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002482033.1
Allele description [Variation Report for NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe)]
NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe)
Condition(s)
- Name:
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Synonyms:
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR; CPT II DEFICIENCY, HEPATIC; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010914; MedGen: C1833511; Orphanet: 228305; OMIM: 600649
- Name:
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Synonyms:
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC; CPT II DEFICIENCY, MYOPATHIC; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009704; MedGen: C1833508; Orphanet: 157; Orphanet: 228302; OMIM: 255110
- Name:
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Synonyms:
- CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL; CPT II DEFICIENCY, LETHAL NEONATAL; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012136; MedGen: C1833518; Orphanet: 228308; OMIM: 608836
-
Same, Isotopes for PubChem Compound (Select 57693749) (1)
PubChem Compound
-
initiation factor IF-I [Bacillus subtilis subsp. subtilis str. 168]
initiation factor IF-I [Bacillus subtilis subsp. subtilis str. 168]gi|16077207|ref|NP_388020.1|Protein
-
metagenomes
metagenomesRecovery of nearly 8,000 uncultivated bacterial and archaeal genomes substantially flesh out the tree of lifeBioProject
-
BioProject for Assembly (Select 1247921) (1)
BioProject
-
RefSeq RNA Links for Gene (Select 459743) (50)
Nucleotide
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Last Updated: Mar 16, 2024