Annotation Detail

Information
Associated Genes
LIPC
Associated Variants
LIPC p.Leu377Phe (p.L377F) ( ENST00000299022.10, ENST00000356113.10, ENST00000414170.7, ENST00000433326.2 )
LIPC p.Leu377Phe (p.L377F) ( ENST00000299022.10, ENST00000356113.10, ENST00000414170.7, ENST00000433326.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000236.3(LIPC):c.1129C>T (p.Leu377Phe) AND not provided
ClinVar Allele ID
3134891
ClinVar RefSeq Alternation Syntax
NM_000236.3:c.1129C>T
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2023-04-22
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003832563
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs