NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) AND Autosomal recessive spinocerebellar ataxia 20
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000416984.1
Allele description [Variation Report for NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)]
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)
Condition(s)
Assertion and evidence details
Last Updated: Nov 19, 2022