NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 24, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000667371.1
Allele description [Variation Report for NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)]
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024