NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) AND Microcephaly 9, primary, autosomal recessive
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- May 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000145609.20
Allele description [Variation Report for NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)]
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
Condition(s)
-
PREDICTED: Mus musculus endosomal transmembrane epsin interactor 3 (Entrep3), tr...
PREDICTED: Mus musculus endosomal transmembrane epsin interactor 3 (Entrep3), transcript variant X3, mRNAgi|1907151957|ref|XM_006501978.5|Nucleotide
-
protein ENTREP3 isoform X7 [Mus musculus]
protein ENTREP3 isoform X7 [Mus musculus]gi|568923848|ref|XP_006502044.1|Protein
-
PREDICTED: Solanum lycopersicum calmodulin-binding transcription factor SR2 (LOC...
PREDICTED: Solanum lycopersicum calmodulin-binding transcription factor SR2 (LOC101055567), transcript variant X1, mRNAgi|1444442606|ref|XM_010315848.3|Nucleotide
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Last Updated: Oct 8, 2024