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
not provided
Source Database
ClinVar
Description
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) AND not provided
ClinVar Allele ID
106800
ClinVar RefSeq Alternation Syntax
NM_006767.4:c.365C>T
Clinical Significance Description
Conflicting interpretations of pathogenicity
Clinical Significance Last Update
2024-01-19
Clinical Significance Review Status
criteria provided, conflicting interpretations
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001200448
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs