NM_014363.6(SACS):c.3356del (p.Pro1119fs) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (3 submissions)
- Last evaluated:
- Feb 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000412109.6
Allele description [Variation Report for NM_014363.6(SACS):c.3356del (p.Pro1119fs)]
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
Condition(s)
-
Profile neighbors for GEO Profiles (Select 115953554) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 75931273) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 75946704) (19)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 75931273) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024