NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu) AND Microcephaly 9, primary, autosomal recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000270516.6
Allele description [Variation Report for NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)]
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)
Condition(s)
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Taf1d TATA-box binding protein associated factor, RNA polymerase I, D [Mus muscu...
Taf1d TATA-box binding protein associated factor, RNA polymerase I, D [Mus musculus]Gene ID:75316Gene
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Gene Links for GEO Profiles (Select 115314702) (1)
Gene
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Chromosome neighbors for GEO Profiles (Select 115329538) (20)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 49964779) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024