NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) AND 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002059014.6
Allele description [Variation Report for NM_020166.5(MCCC1):c.1341A>G (p.Ala447=)]
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=)
Condition(s)
- Name:
- 3-methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)
- Synonyms:
- MCCD TYPE 1; METHYLCROTONYLGLYCINURIA TYPE I; MCC 1 deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008861; MedGen: C0268600; Orphanet: 6; OMIM: 210200
-
Gallus gallus microRNA 29b-2 (MIR29B2), microRNA
Gallus gallus microRNA 29b-2 (MIR29B2), microRNAgi|269847699|ref|NR_031490.1|Nucleotide
-
deoxycytidylate deaminase isoform X1 [Homo sapiens]
deoxycytidylate deaminase isoform X1 [Homo sapiens]gi|2462595225|ref|XP_054205044.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024