NM_018136.5(ASPM):c.1267C>G (p.Pro423Ala) AND Microcephaly 5, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098624.4
Allele description [Variation Report for NM_018136.5(ASPM):c.1267C>G (p.Pro423Ala)]
NM_018136.5(ASPM):c.1267C>G (p.Pro423Ala)
Condition(s)
-
Chain A, Calcium-dependent protein kinase, isoform AK1
Chain A, Calcium-dependent protein kinase, isoform AK1gi|85544080|pdb|2AAO|AProtein
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023