NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) AND Primary autosomal recessive microcephaly 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2009
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000020772.1
Assertion and evidence details
Last Updated: Sep 8, 2021