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SLC40A1 c.215T>A ;(p.V72D)
Variant ID: 2-190439943-A-T
NM_014585.5(
SLC40A1
):c.215T>A;(p.V72D)
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:
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: SLC40A1: Val72Asp
PubMed Link:
23049448
Variant Present in the following documents:
Main text
rbhh-34-311.pdf
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Val72Asp
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page
Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
International Journal Of Molecular Sciences
Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012
Variant appearance in text: SLC40A1: Val72Asp
PubMed Link:
22408404
Variant Present in the following documents:
Main text
ijms-13-01497.pdf
View BVdb publication page