NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) AND Koolen-de Vries syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003093950.4
Allele description [Variation Report for NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)]
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024