APOC3 c.133G>A ;(p.D45N)

Variant ID: 11-116701566-G-A

NM_000040.1(APOC3):c.133G>A;(p.D45N)

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:

The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation.

Journal Of Lipid Research
Sundaram, Meenakshi M; Curtis, Kaitlin R KR; Amir Alipour, Mohsen M; LeBlond, Nicholas D ND; Margison, Kaitlyn D KD; Yaworski, Rebecca A RA; Parks, Robin J RJ; McIntyre, Adam D AD; Hegele, Robert A RA; Fullerton, Morgan D MD; Yao, Zemin Z
Publication Date: 2017-11

Variant appearance in text: APOC3: Asp45Asn
PubMed Link: 28887372
Variant Present in the following documents:
  • Main text
View BVdb publication page