NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) AND Autosomal dominant 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:
- RCV001145472.4
Allele description [Variation Report for NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)]
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024