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CFH c.1360G>A ;(p.D454N)
Variant ID: 1-196682888-G-A
NM_000186.3(
CFH
):c.1360G>A;(p.D454N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
High-resolution association mapping with libraries of immortalized lines from ancestral landraces.
Tag. Theoretical And Applied Genetics. Theoretische Und Angewandte Genetik
Würschum, Tobias T; Weiß, Thea M TM; Renner, Juliane J; Friedrich Utz, H H; Gierl, Alfons A; Jonczyk, Rafal R; Römisch-Margl, Lilla L; Schipprack, Wolfgang W; Schön, Chris-Carolin CC; Schrag, Tobias A TA; Leiser, Willmar L WL; Melchinger, Albrecht E AE
Publication Date: 2022-01
Variant appearance in text: CFH: D454N
PubMed Link:
34668978
Variant Present in the following documents:
122_2021_Article_3963.pdf
View BVdb publication page
In-depth plasma proteomics reveals increase in circulating PD-1 during anti-PD-1 immunotherapy in patients with metastatic cutaneous melanoma.
Journal For Immunotherapy Of Cancer
Babačić, Haris H; Lehtiö, Janne J; Pico de Coaña, Yago Y; Pernemalm, Maria M; Eriksson, Hanna H
Publication Date: 2020-05
Variant appearance in text: CFH: 1360G>A; D454N
PubMed Link:
32457125
Variant Present in the following documents:
jitc-2019-000204supp003.xlsx, sheet 3
View BVdb publication page