CP c.1664G>A ;(p.G555E)

Variant ID: 3-148916203-C-T

NM_000096.3(CP):c.1664G>A;(p.G555E)

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:

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease.

Bmc Gastroenterology
Ondrejkovičová, Mária M; Dražilová, Sylvia S; Drakulová, Monika M; Siles, Juan López JL; Zemjarová Mezenská, Renáta R; Jungová, Petra P; Fabián, Martin M; Rychlý, Boris B; Žigrai, Miroslav M
Publication Date: 2020-04-07

Variant appearance in text: CP: Gly555Glu
PubMed Link: 32264837
Variant Present in the following documents:
  • Main text
  • 12876_2020_Article_1237.pdf
View BVdb publication page