NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466375.1
Allele description [Variation Report for NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)]
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023