TG c.1778dup ;(p.D594Rfs*4)

Variant ID: 8-133899394-A-AG

NM_003235.4(TG):c.1778dup;(p.D594Rfs*4)

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 metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.

Practical Laboratory Medicine
Tada, Hayato H; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Hayashi, Kenshi K
Publication Date: 2015-04-01

Variant appearance in text: TG: 1778dupG
PubMed Link: 28932795
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page