NM_001609.4(ACADSB):c.370G>C (p.Val124Leu) AND Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822395.9
Allele description [Variation Report for NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)]
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)
Condition(s)
- Name:
- Deficiency of 2-methylbutyryl-CoA dehydrogenase (ACADSB)
- Synonyms:
- 2-methylbutyryl-CoA dehydrogenase deficiency; SBCAD deficiency; 2-methylbutyric aciduria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012392; MedGen: C1864912; Orphanet: 79157; OMIM: 610006; Human Phenotype Ontology: HP:0020147
-
Gm10226 predicted gene 10226 [Mus musculus]
Gm10226 predicted gene 10226 [Mus musculus]Gene ID:100750327Gene
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023