NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466373.1
Allele description [Variation Report for NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)]
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
Condition(s)
-
hypothetical protein LOC51101 [Homo sapiens]
hypothetical protein LOC51101 [Homo sapiens]gi|7705775|ref|NP_057094.1|Protein
-
Rubus vastulus (133958)
Nucleotide
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Last Updated: Dec 30, 2023