LPL c.840del ;(p.N281Mfs*23)

Variant ID: 8-19813416-TG-T

NM_000237.2(LPL):c.840del;(p.N281Mfs*23)

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:

Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.

Jimd Reports
Pugni, Lorenza L; Riva, Enrica E; Pietrasanta, Carlo C; Rabacchi, Claudio C; Bertolini, Stefano S; Pederiva, Cristina C; Mosca, Fabio F; Calandra, Sebastiano S
Publication Date: 2014

Variant appearance in text: LPL: 840delG; N281Mfs*23
PubMed Link: 24142281
Variant Present in the following documents:
  • Main text
View BVdb publication page