NM_000098.3(CPT2):c.1506C>T (p.Ile502=) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001429328.7
Allele description [Variation Report for NM_000098.3(CPT2):c.1506C>T (p.Ile502=)]
NM_000098.3(CPT2):c.1506C>T (p.Ile502=)
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
-
LOC109478004 [Branchiostoma belcheri]
LOC109478004 [Branchiostoma belcheri]Gene ID:109478004Gene
-
LOC109473802 [Branchiostoma belcheri]
LOC109473802 [Branchiostoma belcheri]Gene ID:109473802Gene
-
CEBPG CCAAT enhancer binding protein gamma [Homo sapiens]
CEBPG CCAAT enhancer binding protein gamma [Homo sapiens]Gene ID:1054Gene
-
Gene Links for GEO Profiles (Select 132187232) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 123326437) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024