NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466375.1
Allele description [Variation Report for NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)]
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
Condition(s)
-
RecName: Full=Neuronal acetylcholine receptor subunit beta-2; AltName: Full=Neur...
RecName: Full=Neuronal acetylcholine receptor subunit beta-2; AltName: Full=Neuronal acetylcholine receptor non-alpha-1 chain; Short=N-alpha 1; Flags: Precursorgi|6226548|sp|P12390.2|ACHB2_RATProtein
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023