NM_014363.6(SACS):c.1229T>A (p.Leu410Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466325.1
Allele description [Variation Report for NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)]
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
Condition(s)
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BB342148 RIKEN full-length enriched, 10 days neonate cerebellum Mus musculus cDN...
BB342148 RIKEN full-length enriched, 10 days neonate cerebellum Mus musculus cDNA clone B930035L09 3', mRNA sequencegi|9051856|gnl|dbEST|5228603|dbj|BB 8.1|Nucleotide
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LamdiSest086est L.digitata sporophyte Lambda ZapII Laminaria digitata cDNA, mRNA...
LamdiSest086est L.digitata sporophyte Lambda ZapII Laminaria digitata cDNA, mRNA sequencegi|6918985|gnl|dbEST|3802779|gb|AW4 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024