NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter) AND Arthrogryposis, renal dysfunction, and cholestasis 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 15, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000504086.6
Allele description [Variation Report for NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)]
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024