NM_000018.4(ACADVL):c.1290dup (p.Asp431fs) AND Very long chain acyl-CoA dehydrogenase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003602451.1
Allele description [Variation Report for NM_000018.4(ACADVL):c.1290dup (p.Asp431fs)]
NM_000018.4(ACADVL):c.1290dup (p.Asp431fs)
Condition(s)
-
PKD1L2 [Tauraco erythrolophus]
PKD1L2 [Tauraco erythrolophus]Gene ID:104383824Gene
-
DEGS2 [Geospiza fortis]
DEGS2 [Geospiza fortis]Gene ID:102044947Gene
-
DICPUDRAFT_97266 [Dictyostelium purpureum]
DICPUDRAFT_97266 [Dictyostelium purpureum]Gene ID:10499856Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024