NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr) AND Microcephaly 5, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003141589.3
Allele description [Variation Report for NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)]
NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)
Condition(s)
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Profile neighbors for GEO Profiles (Select 83069560) (200)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 83089974) (200)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 83071443) (20)
GEO Profiles
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popset representative uid 662035434[word] (109)
Protein
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MAG: hypothetical protein B6U79_01505 [Candidatus Bathyarchaeota archaeon ex4484...
MAG: hypothetical protein B6U79_01505 [Candidatus Bathyarchaeota archaeon ex4484_231]gi|1231988175|gb|OYT49579.1||gnl|WG Z|B6U79_01505Protein
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See more...Assertion and evidence details
Last Updated: Mar 16, 2024