Full data view for gene TMPRSS6

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

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

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     
+/. 15 c.1813del r.(?) p.(Ala605Profs*8) Paternal (inferred) - pathogenic g.37466585del g.37070545del - - TMPRSS6_000001 - Grandchamp, submitted - - Germline yes - - - - DNA SEQ - - IRIDA - Grandchamp, submitted - M yes Algeria - - - - - 1 Bernard Grandchamp
+/. 15 c.1813del r.(?) p.(Ala605Profs*8) Parent #1 - pathogenic g.37466585del g.37070545del 1813delG - TMPRSS6_000001 - PubMed: Finberg 2008 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Finberg 2008 family, 2 affecteds - - - Europe, north - - - - 2 Mayka Sanchez
+/. 15 c.1813del r.(?) p.(Ala605Profs*8) Paternal (inferred) - pathogenic g.37466585del g.37070545del - - TMPRSS6_000001 - PubMed: Guillem 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Guillem 2012 family, 2 affecteds - - Algeria - - - - - 2 Mayka Sanchez
+/. 15 c.1813del r.(?) p.(Ala605Profs*8) Maternal (inferred) - pathogenic g.37466585del g.37070545del - - TMPRSS6_000001 - Grandchamp, submitted - - Germline yes - - - - DNA SEQ - - IRIDA - Grandchamp, submitted - M yes Algeria - - - - - 1 Bernard Grandchamp
+/. 15 c.1813del r.(?) p.(Ala605Profs*8) Parent #2 - pathogenic g.37466585del g.37070545del - - TMPRSS6_000001 - {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 Ireland - - - - - 1 Mayka Sanchez
+/. 15 c.1813del r.(?) p.(Ala605Profs*8) Maternal (inferred) - pathogenic g.37466585del g.37070545del - - TMPRSS6_000001 - PubMed: Guillem 2012 - - Unknown yes - - - - DNA SEQ - - IRIDA - PubMed: Guillem 2012 family, 2 affecteds - - Algeria - - - - - 2 Mayka Sanchez
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.