Annotation Detail

Information
Associated Genes
LPL
Associated Variants
LPL S474*
LPL S474*
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND not specified
ClinVar Allele ID
16573
ClinVar RefSeq Alternation Syntax
NM_000237.3:c.1421C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2021-12-16
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001804709
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs