NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) AND Autosomal recessive cerebellar ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000296339.6
Allele description [Variation Report for NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)]
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)
Condition(s)
Assertion and evidence details
Last Updated: Mar 10, 2024