NM_014363.6(SACS):c.5458C>T (p.Leu1820=) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831432.1
Allele description [Variation Report for NM_014363.6(SACS):c.5458C>T (p.Leu1820=)]
NM_014363.6(SACS):c.5458C>T (p.Leu1820=)
Condition(s)
-
NADH dehydrogenase subunit 2 (mitochondrion) [Cinnyris jugularis idenburgi]
NADH dehydrogenase subunit 2 (mitochondrion) [Cinnyris jugularis idenburgi]gi|2371279401|gb|WAB21681.1|Protein
-
Homo sapiens 5'-nucleotidase I mRNA, complete cds
Homo sapiens 5'-nucleotidase I mRNA, complete cdsgi|13603378|gb|AY028778.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024