CFH c.1073A>C ;(p.D358A)

Variant ID: 1-196658658-A-C

NM_000186.3(CFH):c.1073A>C;(p.D358A)

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:

Identification of cis-regulatory variation influencing protein abundance levels in human plasma.

Human Molecular Genetics
Lourdusamy, Anbarasu A; Newhouse, Stephan S; Lunnon, Katie K; Proitsi, Petra P; Powell, John J; Hodges, Angela A; Nelson, Sally K SK; Stewart, Alex A; Williams, Stephen S; Kloszewska, Iwona I; Mecocci, Patrizia P; Soininen, Hilkka H; Tsolaki, Magda M; Vellas, Bruno B; Lovestone, Simon S; , ; Dobson, Richard R; ,
Publication Date: 2012-08-15

Variant appearance in text: CFH: Asp358Ala
PubMed Link: 22595970
Variant Present in the following documents:
  • Main text
View BVdb publication page