NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) AND Microcephaly 5, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098118.4
Allele description [Variation Report for NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)]
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024