NM_000018.4(ACADVL):c.1435-19G>T AND Very long chain acyl-CoA dehydrogenase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002903775.3
Allele description [Variation Report for NM_000018.4(ACADVL):c.1435-19G>T]
NM_000018.4(ACADVL):c.1435-19G>T
Condition(s)
-
Osteogenesis imperfecta type 16
Osteogenesis imperfecta type 16MedGen
-
MedGen for Gene (Select 90993) (1)
MedGen
-
BioAssay, by Gene target for Gene (Select 90993) (12)
PubChem BioAssay
-
BRAF35/HDAC2 complex 80 kDa protein [Homo sapiens]
BRAF35/HDAC2 complex 80 kDa protein [Homo sapiens]gi|20135652|gb|AAM09095.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024