NM_001609.4(ACADSB):c.159C>T (p.Pro53=) AND Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 26, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001455840.6
Allele description [Variation Report for NM_001609.4(ACADSB):c.159C>T (p.Pro53=)]
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)
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
-
Mus musculus CD209d antigen (Cd209d), mRNA
Mus musculus CD209d antigen (Cd209d), mRNAgi|24475791|ref|NM_130904.2|Nucleotide
-
Homo sapiens olfactory receptor, family 8, subfamily D, member 4, mRNA (cDNA clo...
Homo sapiens olfactory receptor, family 8, subfamily D, member 4, mRNA (cDNA clone MGC:168800 IMAGE:9021177), complete cdsgi|187953472|gb|BC137180.1|Nucleotide
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Last Updated: Feb 28, 2024