NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001271712.1
Allele description [Variation Report for NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)]
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)
Condition(s)
- Name:
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Identifiers:
-
PREDICTED: Mus musculus euchromatic histone methyltransferase 1 (Ehmt1), transcr...
PREDICTED: Mus musculus euchromatic histone methyltransferase 1 (Ehmt1), transcript variant X3, mRNAgi|755498030|ref|XM_006498424.2|Nucleotide
-
Homo sapiens sulfiredoxin 1 (SRXN1), mRNA
Homo sapiens sulfiredoxin 1 (SRXN1), mRNAgi|22129777|ref|NM_080725.1|Nucleotide
-
minor tail protein [Mycobacterium phage 244]
minor tail protein [Mycobacterium phage 244]gi|109302780|ref|YP_654782.1|Protein
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Last Updated: Mar 16, 2024