NM_000098.3(CPT2):c.1016C>T (p.Ser339Phe) AND Carnitine palmitoyl transferase II deficiency, neonatal form
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003455271.1
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, 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
-
GSM1700197[Accession] (4)
GEO DataSets
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Troglodytes hiemalis voucher CMNH:Birds:75095 ATP8 (ATP8) gene, complete cds; mi...
Troglodytes hiemalis voucher CMNH:Birds:75095 ATP8 (ATP8) gene, complete cds; mitochondrialgi|2594389657|gb|OR472265.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 79761373) (0)
GEO Profiles
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"11037-48-2"[CompleteSynonym] (1)
PubChem Compound
-
Taxonomy Links for Nucleotide (Select 190703367) (1)
Taxonomy
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Last Updated: Sep 29, 2024