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