NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) AND Spinocerebellar ataxia type 19/22
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000853621.16
Allele description [Variation Report for NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)]
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024