NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) AND 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000546862.6
Allele description [Variation Report for NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)]
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)
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
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Campeloma parthenum isolate loc9 cytochrome b gene, mitochondrial gene for mitoc...
Campeloma parthenum isolate loc9 cytochrome b gene, mitochondrial gene for mitochondrial product, partial cdsgi|4928329|gb|AF131961.1|Nucleotide
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nucleotide pyrophosphohydrolase [Nautilia profundicola AmH]
nucleotide pyrophosphohydrolase [Nautilia profundicola AmH]gi|224373775|gnl|REF_tigr|NAMH_1781 YP_002608147.1|Protein
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AGENCOURT_103367881 NICHD_XGC_tropInt_63 Xenopus tropicalis cDNA clone IMAGE:896...
AGENCOURT_103367881 NICHD_XGC_tropInt_63 Xenopus tropicalis cDNA clone IMAGE:8961409 5', mRNA sequencegi|126528667|gnl|dbEST|45046668|gb| 392.1|Nucleotide
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JGI_CABD12679.rev NIH_XGC_tropLun1 Xenopus tropicalis cDNA clone CABD12679 3', m...
JGI_CABD12679.rev NIH_XGC_tropLun1 Xenopus tropicalis cDNA clone CABD12679 3', mRNA sequencegi|59740699|gnl|dbEST|27806552|gb|D 27.1|Nucleotide
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Last Updated: Sep 29, 2024