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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Streptococcus equi subsp. equi strain ATCC 39506 chromosome, complete genome
Streptococcus equi subsp. equi strain ATCC 39506 chromosome, complete genomegi|2770133339|ref|NZ_CP021972.1|Nucleotide
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Homo sapiens cDNA, FLJ94517, highly similar to Homo sapiens baculoviral IAP repe...
Homo sapiens cDNA, FLJ94517, highly similar to Homo sapiens baculoviral IAP repeat-containing 4 (BIRC4), mRNAgi|164696260|dbj|AK313883.1|Nucleotide
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translation elongation factor 1-alpha, partial [Coriolopsis retropicta]
translation elongation factor 1-alpha, partial [Coriolopsis retropicta]gi|1586351892|gb|QBK19808.1|Protein
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RNA polymerase II second largest subunit, partial [Trametes strumosa]
RNA polymerase II second largest subunit, partial [Trametes strumosa]gi|1586352066|gb|QBK19856.1|Protein
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Last Updated: Sep 29, 2024