Annotation Detail
Information
- Associated Genes
- CENPE
- Associated Variants
-
CENPE p.Asp933Asn (p.D933N)
(
ENST00000265148.9,
ENST00000380026.8 )
CENPE p.Asp933Asn (p.D933N) ( ENST00000265148.9, ENST00000380026.8 ) - Associated Disease
- Microcephaly 13, primary, autosomal recessive
- Source Database
- ClinVar
- Description
- NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) AND Microcephaly 13, primary, autosomal recessive
- ClinVar Allele ID
- 167355
- ClinVar RefSeq Alternation Syntax
- NM_001286734.2:c.2722G>A
- ClinVar RefSeq Alternation Syntax
- NM_001813.3:c.2797G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144849
- ClinVar Disease
- Microcephaly 13, primary, autosomal recessive
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 24748105
Drugs