NM_015713.5(RRM2B):c.1046C>G (p.Ala349Gly) AND RRM2B-related mitochondrial disease
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000119017.12
Allele description [Variation Report for NM_015713.5(RRM2B):c.1046C>G (p.Ala349Gly)]
NM_015713.5(RRM2B):c.1046C>G (p.Ala349Gly)
Condition(s)
- Name:
- RRM2B-related mitochondrial disease
- Identifiers:
- MedGen: CN187502
Assertion and evidence details
Last Updated: Mar 23, 2024