NM_000255.4(MMUT):c.393G>A (p.Gln131=) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001085783.6
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)
Assertion and evidence details
Last Updated: Mar 5, 2024