LPL c.721C>T ;(p.P241S)

Variant ID: 8-19811810-C-T

NM_000237.2(LPL):c.721C>T;(p.P241S)

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 presenting with neonatal perianal abscesses.

Bmj Case Reports
Akesson, Lauren S LS; Burnett, John R JR; Mehta, Divyesh K DK; Martin, Andrew C AC
Publication Date: 2016-01-29

Variant appearance in text: LPL: 721C>T
PubMed Link: 26825936
Variant Present in the following documents:
  • Main text
View BVdb publication page