NM_000098.3(CPT2):c.771G>T (p.Leu257=) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741087.2
Allele description [Variation Report for NM_000098.3(CPT2):c.771G>T (p.Leu257=)]
NM_000098.3(CPT2):c.771G>T (p.Leu257=)
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
-
Acinetobacter baumannii strain MRSN7251, whole genome shotgun sequencing project
Acinetobacter baumannii strain MRSN7251, whole genome shotgun sequencing projectgi|1694007824|gb|VHED00000000.1|VHE 0000Nucleotide
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Acinetobacter baumannii strain MRSN31468, whole genome shotgun sequencing projec...
Acinetobacter baumannii strain MRSN31468, whole genome shotgun sequencing projectgi|1694164015|gb|VHFS00000000.1|VHF 0000Nucleotide
-
Profile neighbors for GEO Profiles (Select 96353144) (199)
GEO Profiles
-
TMSB4X thymosin beta 4 X-linked [Homo sapiens]
TMSB4X thymosin beta 4 X-linked [Homo sapiens]Gene ID:7114Gene
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Gene Links for GEO Profiles (Select 96345030) (1)
Gene
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Last Updated: Sep 29, 2024