NM_000255.4(MMUT):c.393G>A (p.Gln131=) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001271804.1
Allele description [Variation Report for NM_000255.4(MMUT):c.393G>A (p.Gln131=)]
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
Condition(s)
- Name:
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Identifiers:
-
ATP synthase F0 subunit 9 (mitochondrion) [Phytophthora infestans]
ATP synthase F0 subunit 9 (mitochondrion) [Phytophthora infestans]gi|9695379|ref|NP_037601.1|Protein
-
Craseoa lathetica mitochondrion, complete genome
Craseoa lathetica mitochondrion, complete genomegi|2523517808|gb|OQ957215.1|Nucleotide
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Last Updated: Mar 5, 2024