Annotation Detail
Information
- Associated Genes
- LZTR1
- Associated Variants
-
LZTR1 p.Arg688Cys (p.R688C)
(
ENST00000646124.2,
ENST00000700578.1 )
LZTR1 p.Arg688Cys (p.R688C) ( ENST00000646124.2, ENST00000700578.1 ) - Associated Disease
- LZTR1-related disorder
- Source Database
- ClinVar
- Description
- NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) AND LZTR1-related disorder
- ClinVar Allele ID
- 106801
- ClinVar RefSeq Alternation Syntax
- NM_006767.4:c.2062C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-02-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004529908
- ClinVar Disease
- LZTR1-related disorder
- Observed Origin Sample
- germline
Drugs