Annotation Detail
Information
- Associated Genes
- LZTR1
- Associated Variants
-
LZTR1 p.Thr783ArgfsTer5 (p.T783Rfs*5)
(
ENST00000646124.2,
ENST00000700578.1 )
LZTR1 p.Thr783ArgfsTer5 (p.T783Rfs*5) ( ENST00000646124.2, ENST00000700578.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) AND multiple conditions
- ClinVar Allele ID
- 106802
- ClinVar RefSeq Alternation Syntax
- NM_006767.4:c.2348_2351del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-12-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002444559
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs