COG2 c.739G>C ;(p.V247L)

Variant ID: 1-230805246-G-C

NM_007357.2(COG2):c.739G>C;(p.V247L)

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:

Comprehensive evaluation of apolipoprotein H gene (APOH) variation identifies novel associations with measures of lipid metabolism in GENOA.

Journal Of Lipid Research
Leduc, Magalie S MS; Shimmin, Lawrence C LC; Klos, Kathy L E KL; Hanis, Craig C; Boerwinkle, Eric E; Hixson, James E JE
Publication Date: 2008-12

Variant appearance in text: LDLC: Val247Leu
PubMed Link: 18676959
Variant Present in the following documents:
  • Main text
View BVdb publication page