NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu) AND Very long chain acyl-CoA dehydrogenase deficiency
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001200829.3
Allele description [Variation Report for NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)]
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)
Condition(s)
-
sphingosine kinase 2 isoform b [Homo sapiens]
sphingosine kinase 2 isoform b [Homo sapiens]gi|323462183|ref|NP_001191087.1|Protein
-
Beta-galactosidase (Glycoside Hydrolase Family 2 protein) [Ruminococcus bicircul...
Beta-galactosidase (Glycoside Hydrolase Family 2 protein) [Ruminococcus bicirculans (ex Wegman et al. 2014)]gi|571257720|emb|CCO04050.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024