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)
-
Chromosome neighbors for GEO Profiles (Select 74683758) (20)
GEO Profiles
-
TATA box-binding protein-associated factor RNA polymerase I subunit C isoform X4...
TATA box-binding protein-associated factor RNA polymerase I subunit C isoform X4 [Homo sapiens]gi|2462551551|ref|XP_054170281.1|Protein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024