HFE c.502_504del ;(p.E168del)

Variant ID: 6-26091701-TGGA-T

NM_000410.3(HFE):c.502_504del;(p.E168del)

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:

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: HFE: Glu168del
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: HFE: Glu168del
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page