NM_014874.4(MFN2):c.838C>T (p.Arg280Cys) AND Multiple system atrophy, cerebellar type
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002307469.1
Allele description [Variation Report for NM_014874.4(MFN2):c.838C>T (p.Arg280Cys)]
NM_014874.4(MFN2):c.838C>T (p.Arg280Cys)
Condition(s)
- Name:
- Multiple system atrophy, cerebellar type
- Identifiers:
- MONDO: MONDO:0016418; MedGen: C5554234
Assertion and evidence details
Last Updated: Mar 16, 2024