NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly) AND 3-methylcrotonyl-CoA carboxylase 2 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003057475.3
Allele description [Variation Report for NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)]
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
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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Rat hydroxysteroid sulfotransferase a (STa) mRNA, complete cds
Rat hydroxysteroid sulfotransferase a (STa) mRNA, complete cdsgi|207076|gb|M33329.1|RATSTAANucleotide
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Murina gracilis voucher SJ044 12S ribosomal RNA gene, partial sequence; mitochon...
Murina gracilis voucher SJ044 12S ribosomal RNA gene, partial sequence; mitochondrialgi|262093556|gb|FJ743928.1|Nucleotide
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N-acetyltransferase [bacterium M00.F.Ca.ET.228.01.1.1]
N-acetyltransferase [bacterium M00.F.Ca.ET.228.01.1.1]gi|1614333394|gb|TGP48160.1||gnl|WG G|EN871_04275Protein
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Last Updated: Sep 29, 2024