NM_014363.6(SACS):c.6282del (p.Thr2095fs) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000669770.2
Allele description [Variation Report for NM_014363.6(SACS):c.6282del (p.Thr2095fs)]
NM_014363.6(SACS):c.6282del (p.Thr2095fs)
Condition(s)
-
ENO2 enolase 2 [Bos taurus]
ENO2 enolase 2 [Bos taurus]Gene ID:526006Gene
-
526006[uid] AND (alive[prop]) (1)
Gene
-
Meliponini arginine kinase (ArgK) gene, partial sequence.
Meliponini arginine kinase (ArgK) gene, partial sequence.PopSet: 225056397PopSet
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See more...Assertion and evidence details
Last Updated: Dec 30, 2023