NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter) AND Very long chain acyl-CoA dehydrogenase deficiency
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001200808.2
Allele description [Variation Report for NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter)]
NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter)
Condition(s)
-
Class II aminoacyl-tRNA and biotin synthetases superfamily protein [Arabidopsis ...
Class II aminoacyl-tRNA and biotin synthetases superfamily protein [Arabidopsis thaliana]gi|15236037|ref|NP_193462.1|Protein
-
Mus musculus vomeronasal 1 receptor 68 (Vmn1r68), mRNA
Mus musculus vomeronasal 1 receptor 68 (Vmn1r68), mRNAgi|285026476|ref|NM_001172072.1|Nucleotide
-
Mammillaria sinistrohamata (3)
Nucleotide
-
ly6/PLAUR domain-containing protein 8 preproprotein [Homo sapiens]
ly6/PLAUR domain-containing protein 8 preproprotein [Homo sapiens]gi|146261165|ref|NP_001078943.1|Protein
-
Lcp2 lymphocyte cytosolic protein 2 [Rattus norvegicus]
Lcp2 lymphocyte cytosolic protein 2 [Rattus norvegicus]Gene ID:155918Gene
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023