NM_000255.4(MMUT):c.227G>A (p.Arg76Lys) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 25, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835563.1
Allele description [Variation Report for NM_000255.4(MMUT):c.227G>A (p.Arg76Lys)]
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys)
Condition(s)
- Name:
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Identifiers:
Assertion and evidence details
Last Updated: Oct 8, 2024