NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter) AND Shashi-Pena syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 18, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000824972.1
Allele description [Variation Report for NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter)]
NM_018263.6(ASXL2):c.1228A>T (p.Lys410Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 11, 2022