NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835319.1
Allele description [Variation Report for NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)]
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
Condition(s)
-
transmembrane and immunoglobulin domain containing 3 isoform 1 [Homo sapiens]
transmembrane and immunoglobulin domain containing 3 isoform 1 [Homo sapiens]gi|46559769|ref|NP_065734.5|Protein
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Last Updated: Sep 29, 2024