TFR2 c.178_180del ;(p.E60del)

Variant ID: 7-100238705-GCTC-G

NM_003227.3(TFR2):c.178_180del;(p.E60del)

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: TFR2: Glu60del
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 PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: TFR2: Glu60del
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 PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: TFR2: Glu60del
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page