Annotation Detail
Information
- Associated Genes
- MAP1B
- Associated Variants
-
MAP1B p.Glu712LysfsTer10 (p.E712Kfs*10)
(
ENST00000296755.12 )
MAP1B p.Glu712LysfsTer10 (p.E712Kfs*10) ( ENST00000296755.12 ) - Associated Disease
- Periventricular nodular heterotopia 9
- Source Database
- ClinVar
- Description
- NM_005909.5(MAP1B):c.2134del (p.Glu712fs) AND Periventricular nodular heterotopia 9
- ClinVar Allele ID
- 789341
- ClinVar RefSeq Alternation Syntax
- NM_005909.5:c.2134del
- ClinVar RefSeq Alternation Syntax
- NM_001324255.2:c.1756del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-06-29
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001195718
- ClinVar Disease
- Periventricular nodular heterotopia 9
- Observed Origin Sample
- germline
- Pubmed
- 30150678
Drugs