LPL c.1184C>T ;(p.T395I)

Variant ID: 8-19818456-C-T

NM_000237.2(LPL):c.1184C>T;(p.T395I)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic and functional studies of the LMF1 gene in Thai patients with severe hypertriglyceridemia.

Molecular Genetics And Metabolism Reports
Plengpanich, Wanee W; Muanpetch, Suwanna S; Charoen, Supannika S; Kiateprungvej, Arunrat A; Khovidhunkit, Weerapan W
Publication Date: 2020-06

Variant appearance in text: LPL: 1184C>T; Thr395Ile
PubMed Link: 32190547
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page