NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter) AND Wilson disease
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001385918.5
Allele description [Variation Report for NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)]
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024