NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003056844.1
Allele description [Variation Report for NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)]
NM_000098.3(CPT2):c.1430G>A (p.Arg477Gln)
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
-
Heavy metal transport/detoxification superfamily protein [Arabidopsis thaliana]
Heavy metal transport/detoxification superfamily protein [Arabidopsis thaliana]gi|15226333|ref|NP_180376.1|Protein
-
Txndc2 thioredoxin domain containing 2 (spermatozoa) [Mus musculus]
Txndc2 thioredoxin domain containing 2 (spermatozoa) [Mus musculus]Gene ID:213272Gene
-
213272[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024