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
Hereditary cancer-predisposing syndrome
Source Database
ClinVar
Description
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND multiple conditions
ClinVar Allele ID
106800
ClinVar RefSeq Alternation Syntax
NM_006767.4:c.365C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-09-02
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV002453416
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs