NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) AND Spinocerebellar ataxia type 28
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 1, 2010
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000023377.7
Allele description [Variation Report for NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)]
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)
Condition(s)
Assertion and evidence details
Last Updated: Oct 1, 2022