NM_014363.6(SACS):c.6663del (p.Lys2221fs) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 14, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000666605.1
Allele description [Variation Report for NM_014363.6(SACS):c.6663del (p.Lys2221fs)]
NM_014363.6(SACS):c.6663del (p.Lys2221fs)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024