NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) AND Deficiency of 2-methylbutyryl-CoA dehydrogenase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000871736.8
Allele description [Variation Report for NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)]
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)
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
-
Homo sapiens paired-box transcription factor (PAX4) mRNA, complete cds
Homo sapiens paired-box transcription factor (PAX4) mRNA, complete cdsgi|4105183|gb|AF043978.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024