NM_014363.6(SACS):c.5903C>T (p.Ala1968Val) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001780180.2
Allele description [Variation Report for NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)]
NM_014363.6(SACS):c.5903C>T (p.Ala1968Val)
Condition(s)
-
NADH dehydrogenase subunit 2 (mitochondrion) [Myioborus pictus]
NADH dehydrogenase subunit 2 (mitochondrion) [Myioborus pictus]gi|66270512|gb|AAY43569.1|Protein
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Last Updated: Sep 29, 2024