NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 28, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409179.2
Allele description [Variation Report for NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)]
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
Condition(s)
-
Apopetalum pinnatum (1181)
Nucleotide
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Last Updated: Oct 8, 2024