Annotation Detail
Information
- Associated Genes
- LZTR1
- Associated Variants
-
LZTR1 c.264-13G>A
(
ENST00000646124.2,
ENST00000700578.1 )
LZTR1 c.264-13G>A ( ENST00000646124.2, ENST00000700578.1 ) - Associated Disease
- schwannomatosis 2
- Source Database
- ClinVar
- Description
- NM_006767.4(LZTR1):c.264-13G>A AND Schwannomatosis 2
- ClinVar Allele ID
- 106799
- ClinVar RefSeq Alternation Syntax
- NM_006767.4:c.264-13G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2024-02-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000087292
- ClinVar Disease
- Schwannomatosis 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 24362817
Drugs