NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs) AND Microcephaly 9, primary, autosomal recessive
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 14, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000192978.6
Allele description [Variation Report for NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)]
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023