NM_000255.4(MMUT):c.1515T>C (p.Ile505=) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001833472.1
Allele description [Variation Report for NM_000255.4(MMUT):c.1515T>C (p.Ile505=)]
NM_000255.4(MMUT):c.1515T>C (p.Ile505=)
Condition(s)
- Name:
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Identifiers:
Assertion and evidence details
Last Updated: Oct 8, 2024