NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) AND Charlevoix-Saguenay spastic ataxia
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Sep 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000315960.9
Allele description [Variation Report for NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)]
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
Condition(s)
-
kitlgb [Megalobrama amblycephala]
kitlgb [Megalobrama amblycephala]Gene ID:125246412Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024