NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466362.1
Allele description [Variation Report for NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)]
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
Condition(s)
-
Profile neighbors for GEO Profiles (Select 58885500) (45)
GEO Profiles
-
Taxonomy Links for Nucleotide (Select 2217290465) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023