NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val) AND Microcephaly 9, primary, autosomal recessive
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- 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:
- RCV000145617.11
Allele description [Variation Report for NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)]
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024