NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003771646.2
Allele description [Variation Report for NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)]
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024