Full data view for gene HFE

Information The variants shown are described using the NM_000410.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Lee 2006 - - Unknown ? - - - - DNA PCR, SEQ - - HFE3 - PubMed: Lee and Barton 2006 - M - United Kingdom (Great Britain) White of Scottish descent - - - 34 units of 500ml at weekly phlebotomy (reported as 6.8g Fe removed) 1 Ann Walker
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Matthes 2004 - rs1799945 Germline - - - - - DNA SEQ - - HFE1 - PubMed: Matthes 2004 - M - Portugal - - - - - 1 Chana Unger
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Merryweather-Clarke 2003 - rs1799945 Germline - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Merryweather-Clarke 2003 unaffected carrier mother HFE p.(H63D) M - - - - - - - 1 Chana Unger
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #2 - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Biasiotto 2004 - rs1799945 Germline - - - - - DNA SEQ - - ? - PubMed: Biasiotto 2004 found in 3 individuals (incl. father/son) - - - - - - - - 3 Ann Walker
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #2 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Pietrangelo 2005 - rs1799945 Germline - - - - - DNA SEQ - - HFE1 - PubMed: Pietrangelo 2005 4-generation family, 3 affecteds (F, 2M); 1 M no HFE vars - yes Italy - - - - - 3 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Biasiotto 2003 - rs1799945 Germline - - - - - DNA DHPLC, SEQ - - HFE1 - PubMed: Biasiotto 2003 - - ? Italy - - - - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Camaschella 2000 - - Germline no - - - - DNA, RNA RT-PCR, SEQ - - HFE3 - PubMed: Camaschella 2000, Journal: Camaschella 2000, PubMed: Roetto 2001 2-generation family, 3 affecteds (2F), unaffected heterozygous carrier parents; PatII3 homozygous for HFE:H63D M ? Italy Italina, Sicily - - - - 3 Johan den Dunnen
?/? 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - - - - Germline - - - - - DNA SEQ - - HFE1 - - - - - - - - - - - 1 Gerard C.P. Schaafsma
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HFE 22890139-Fam2Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 2-generation family, affected father and son M no Spain - - - - - 5 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - HFE 22890139-Fam2Pat1f PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 father of Pat1 M - Spain - - - - - 1 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control 22890139-Fam2Pat1m PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 mother of Pat1 F - Spain - - - - - 1 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control 22890139-Fam2Pat1s2 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 sister of Pat1 F - Spain - - - - - 1 Johan den Dunnen
?/. 2 c.187C>G r.(?) p.(His63Asp) Both (homozygous) - VUS g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - - Germline - - - - - DNA SEQ - - HFE 22890139-Fam5Pat1 PubMed: Del-Castillo-Rueda 2012, Journal: Del-Castillo-Rueda 2012 - M - Spain - - - - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Zamani 2012 - - Germline - - - - - DNA SEQ - - HFE 23018356-Pat PubMed: Zamani 2012 - - - Iran - - - - - 4 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Unknown - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Del-Castillo-Rueda 2011 - - Germline - - - - - DNA SEQ Peripheral blood - HFE1 21770687-Pat PubMed: Del-Castillo-Rueda 2011 - M - Portugal - - - - - 1 Mayka Sanchez
+?/. 2 c.187C>G r.(?) p.(His63Asp) Paternal (confirmed) - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Piperno 2004 - - Germline - - - - - DNA SEQ - - HFE 15020277-Fam1 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - - - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Maternal (confirmed) - likely pathogenic g.26091179C>G g.26090951C>G H63D - HFE_000001 - PubMed: Piperno 2004 - - Germline - - - - - DNA SEQ - - HFE 15020277-Fam2 PubMed: Piperno 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy Sicily - - - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat1 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F yes France - - - - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat2 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - M - France - - - - - 1 Johan den Dunnen
+?/. 2 c.187C>G r.(?) p.(His63Asp) Parent #1 - likely pathogenic g.26091179C>G g.26090951C>G - - HFE_000001 - PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - - Germline - - - - - DNA SEQ - - HFE 23600741-Pat7 PubMed: Bardou-Jacquet 2013, Journal: Bardou-Jacquet 2013 - F - France - - - - - 1 Johan den Dunnen
-?/. - c.187C>G r.(?) p.(His63Asp) Unknown - likely benign g.26091179C>G g.26090951C>G - - HFE_000001 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.038 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
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