NM_000098.3(CPT2):c.619G>A (p.Val207Ile) AND Carnitine palmitoyltransferase II deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002047600.5
Allele description [Variation Report for NM_000098.3(CPT2):c.619G>A (p.Val207Ile)]
NM_000098.3(CPT2):c.619G>A (p.Val207Ile)
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
-
Chain D, peroxiredoxin
Chain D, peroxiredoxingi|66360174|pdb|1TP9|DProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024