NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu) AND Microcephaly 5, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000625876.4
Allele description [Variation Report for NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu)]
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu)
Condition(s)
-
ACOT12 [Chlamydotis macqueenii]
ACOT12 [Chlamydotis macqueenii]Gene ID:104481913Gene
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See more...Assertion and evidence details
Last Updated: Dec 11, 2022