NM_022132.5(MCCC2):c.90G>A (p.Ser30=) AND 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002109045.6
Allele description [Variation Report for NM_022132.5(MCCC2):c.90G>A (p.Ser30=)]
NM_022132.5(MCCC2):c.90G>A (p.Ser30=)
Condition(s)
- Name:
- 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Synonyms:
- METHYLCROTONYLGLYCINURIA, TYPE II; 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008862; MedGen: C1859499; Orphanet: 6; OMIM: 210210
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Last Updated: Sep 29, 2024