Annotation Detail

Information
Associated Genes
LZTR1 LOC130067016
Associated Variants
LZTR1 p.Gln10ArgfsTer15 (p.Q10Rfs*15) ( ENST00000646124.2, ENST00000700578.1 )
LZTR1 p.Gln10ArgfsTer15 (p.Q10Rfs*15) ( ENST00000646124.2, ENST00000700578.1 )
Associated Disease
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_006767.4(LZTR1):c.27del (p.Gln10fs) AND multiple conditions
ClinVar Allele ID
153652
ClinVar RefSeq Alternation Syntax
NM_006767.4:c.27del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2023-02-07
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002433625
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs