Full data view for gene TMPRSS6

Information The variants shown are described using the NM_153609.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+?/. 8 c.911C>T r.(?) p.(Ser304Leu) Parent #1 - likely pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - {PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014} - - Germline yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2014, Journal: De Falco 2014 - M no Italy - - - - - 1 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Paternal (inferred) - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 3 affecteds - - - Arab - - - - 3 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Parent #1 - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: Pellegrino 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Pellegrino 2012 family, 1 affected - - Italy - - - - - 1 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Parent #2 - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: Tchou 2009 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Tchou 2009 family, 1 affected - - Switzerland - - - - - 1 Mayka Sanchez
+/. 8 c.911C>T r.(?) p.(Ser304Leu) Maternal (inferred) - pathogenic g.37482412G>A g.37086372G>A 1025C>T - TMPRSS6_000024 - PubMed: De Falco 2010 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: De Falco 2010 family, 3 affecteds - - - Arab - - - - 3 Mayka Sanchez
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