NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001832428.1
Allele description [Variation Report for NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)]
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
Condition(s)
-
NADH dehydrogenase subunit 5 (mitochondrion) [Anthocharis scolymus]
NADH dehydrogenase subunit 5 (mitochondrion) [Anthocharis scolymus]gi|2091530066|ref|YP_010167696.1|Protein
-
PREDICTED: Medicago truncatula protein translocase subunit SECA2, chloroplastic ...
PREDICTED: Medicago truncatula protein translocase subunit SECA2, chloroplastic (LOC25489702), transcript variant X4, mRNAgi|1995117238|ref|XM_024779528.2|Nucleotide
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Last Updated: Sep 29, 2024