NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg) AND Severe combined immunodeficiency due to IKK2 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000651947.4
Allele description [Variation Report for NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg)]
NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024