Annotation Detail
Information
- Associated Genes
- LZTR1
- Associated Variants
-
LZTR1 p.Ser122Leu (p.S122L)
(
ENST00000646124.2,
ENST00000700578.1 )
LZTR1 p.Ser122Leu (p.S122L) ( ENST00000646124.2, ENST00000700578.1 ) - Associated Disease
- schwannomatosis 2
- Source Database
- ClinVar
- Description
- NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND Schwannomatosis 2
- ClinVar Allele ID
- 106800
- ClinVar RefSeq Alternation Syntax
- NM_006767.4:c.365C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000087293
- ClinVar Disease
- Schwannomatosis 2
- Observed Origin Sample
- unknown
- Pubmed
- 24362817
- Pubmed
- 30442762
Drugs