NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) AND Deficiency of butyryl-CoA dehydrogenase
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Sep 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000671132.12
Allele description [Variation Report for NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)]
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)
Condition(s)
- Name:
- Deficiency of butyryl-CoA dehydrogenase (ACADSD)
- Synonyms:
- ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency; SCAD DEFICIENCY, MILD
- Identifiers:
- MONDO: MONDO:0008722; MedGen: C0342783; Orphanet: 26792; OMIM: 201470
-
tyrosine-protein kinase receptor Tie-1 isoform 1 precursor [Homo sapiens]
tyrosine-protein kinase receptor Tie-1 isoform 1 precursor [Homo sapiens]gi|4885631|ref|NP_005415.1|Protein
-
histidine kinase [Chryseobacterium piperi]
histidine kinase [Chryseobacterium piperi]gi|1239680751|gb|ASW74306.1||gnl|PR 2323|CJF12_08370Protein
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Last Updated: Sep 29, 2024