NM_014363.6(SACS):c.7454A>T (p.His2485Leu) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001115053.4
Allele description [Variation Report for NM_014363.6(SACS):c.7454A>T (p.His2485Leu)]
NM_014363.6(SACS):c.7454A>T (p.His2485Leu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023