LPL c.802C>T ;(p.H268Y)

Variant ID: 8-19813378-C-T

NM_000237.2(LPL):c.802C>T;(p.H268Y)

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:

Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Global Pediatric Health
Vidanapathirana, Dinesha Maduri DM; Rodrigo, Thushara T; Waidyanatha, Samantha S; Jasinge, Eresha E; Hooper, Amanda J AJ; Burnett, John R JR
Publication Date: 2017

Variant appearance in text: LPL: 802C>T; His268Tyr
PubMed Link: 28695157
Variant Present in the following documents:
  • Main text
  • 10.1177_2333794X17715839.pdf
View BVdb publication page