NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828724.1
Allele description [Variation Report for NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)]
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
Condition(s)
-
Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide, mRNA (...
Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide, mRNA (cDNA clone MGC:26350 IMAGE:4824846), complete cdsgi|21759811|gb|BC034481.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024