NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) AND Autosomal recessive spinocerebellar ataxia 14
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 16, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000760172.3
Allele description [Variation Report for NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)]
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024