Bibliome.ai browser hg19
Search
About
Stats
FAQ
HFE c.968G>T ;(p.G323V)
Variant ID: 6-26093422-G-T
NM_000410.3(
HFE
):c.968G>T;(p.G323V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Pharmaceuticals (Basel, Switzerland)
Vlasveld, L Tom LT; Janssen, Roel R; Bardou-Jacquet, Edouard E; Venselaar, Hanka H; Hamdi-Roze, Houda H; Drakesmith, Hal H; Swinkels, Dorine W DW
Publication Date: 2019-09-09
Variant appearance in text: HFE: Gly323Val
PubMed Link:
31505869
Variant Present in the following documents:
Main text
pharmaceuticals-12-00132.pdf
View BVdb publication page
Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.
Przeglad Gastroenterologiczny
Raszeja-Wyszomirska, Joanna J; Caleffi, Angela A; Milkiewicz, Piotr P; Pietrangelo, Antonello A
Publication Date: 2014
Variant appearance in text: HFE: G323V
PubMed Link:
25396007
Variant Present in the following documents:
Main text
PG-9-23748.pdf
View BVdb publication page
Non-HFE hemochromatosis.
Revista Brasileira De Hematologia E Hemoterapia
Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC
Publication Date: 2012
Variant appearance in text: HFE: Gly323Val
PubMed Link:
23049448
Variant Present in the following documents:
rbhh-34-311.pdf
View BVdb publication page