Annotation Detail

Information
Associated Genes
CENPE
Associated Variants
CENPE p.Lys1355Glu (p.K1355E) ( ENST00000265148.9, ENST00000380026.8 )
CENPE p.Lys1355Glu (p.K1355E) ( ENST00000265148.9, ENST00000380026.8 )
Associated Disease
Microcephaly 13, primary, autosomal recessive
Source Database
ClinVar
Description
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) AND Microcephaly 13, primary, autosomal recessive
ClinVar Allele ID
167356
ClinVar RefSeq Alternation Syntax
NM_001286734.2:c.3988A>G
ClinVar RefSeq Alternation Syntax
NM_001813.3:c.4063A>G
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-08-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000144850
ClinVar Disease
Microcephaly 13, primary, autosomal recessive
Observed Origin Sample
germline
Pubmed
24748105
Drugs