NM_000018.4(ACADVL):c.343del AND Very long chain acyl-CoA dehydrogenase deficiency
- Germline classification:
- Pathogenic (10 submissions)
- Last evaluated:
- Nov 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000001691.32
Allele description [Variation Report for NM_000018.4(ACADVL):c.343del]
NM_000018.4(ACADVL):c.343del
Condition(s)
-
CD99 antigen-like protein 2 isoform 2 precursor [Homo sapiens]
CD99 antigen-like protein 2 isoform 2 precursor [Homo sapiens]gi|41281670|ref|NP_604395.1|Protein
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Last Updated: Sep 29, 2024