Full data view for gene F9

Information The variants shown are described using the NM_000133.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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     
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Elmahmoudi et al., 2011 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMB - PubMed: Elmahmoudi et al., 2011 - M ? Tunisia - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Elmahmoudi et al., 2011 - - Unknown ? - - 0 - DNA DHPLC, PCR, SEQ - - HEMB - PubMed: Elmahmoudi et al., 2011 - M ? Tunisia - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Anson et al., 1988 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Anson et al., 1988 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Anson et al., 1988 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Anson et al., 1988 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ketterling et al., 1994a - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ketterling et al., 1994a - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ketterling et al., 1994a - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ketterling et al., 1994a - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ketterling et al., 1994a - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ketterling et al., 1994a - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Matthews et al., 1987 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Matthews et al., 1987 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Matthews et al., 1987 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Matthews et al., 1987 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ketterling et al., 1993a - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ketterling et al., 1993a - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ketterling et al., 1993a - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ketterling et al., 1993a - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Czech Republic) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Czech Republic) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Hassan et al., 1985 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Hassan et al., 1985 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Kamiya et al., 1995 - - Unknown ? - - 0 - ? ? - - HEMB - PubMed: Kamiya et al., 1995 - M ? Japan - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Tanimoto et al., 1988 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Tanimoto et al., 1988 - M ? (Japan) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Bernardi et al., 1985 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Bernardi et al., 1985 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Tanimoto et al., 1988 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Tanimoto et al., 1988 - M ? (Japan) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Tanimoto et al., 1988 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Tanimoto et al., 1988 - M ? (Japan) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Tanimoto et al., 1988 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Tanimoto et al., 1988 - M ? (Japan) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ludwig et al., 1989 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Ludwig et al., 1989 - M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Figueiredo, 1993 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMB - PubMed: Figueiredo, 1993 - M ? Brazil - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Saad et al., 1994 - - Unknown ? - - 0 - DNA HD, PCR, SEQ - - HEMB - PubMed: Saad et al., 1994 - M ? (United Kingdom (Great Britain)) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Wadelius et al., 1988 - - Unknown ? - - 0 - DNA Southern - - HEMB - PubMed: Wadelius et al., 1988 - M ? Sweden - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Thompson, 1991 - - Unknown ? - - 0 - ? ? - - HEMB - PubMed: Thompson, 1991 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Wulff et al., 2001 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMB - Wulff et al., 2001 Greifswald Hemophilia B Study. In Scharrer I, Schramm W (Ed.), 30th Hemophilia Symposium Hamburg 1999 (pp. 144-153). Berlin / Heidelberg, Germany: Springer-Verlag M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Wulff et al., 2001 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMB - Wulff et al., 2001 Greifswald Hemophilia B Study. In Scharrer I, Schramm W (Ed.), 30th Hemophilia Symposium Hamburg 1999 (pp. 144-153). Berlin / Heidelberg, Germany: Springer-Verlag M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Wulff et al., 2001 - - Unknown ? - - 0 - DNA PCR, SEQ, Southern - - HEMB - Wulff et al., 2001 Greifswald Hemophilia B Study. In Scharrer I, Schramm W (Ed.), 30th Hemophilia Symposium Hamburg 1999 (pp. 144-153). Berlin / Heidelberg, Germany: Springer-Verlag M ? (Germany) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Jayandharan et al., 2005 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Jayandharan et al., 2005 - M ? India - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Jayandharan et al., 2005 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Jayandharan et al., 2005 - M ? India - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Li et al., 2000 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Li et al., 2000 - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ketterling et al., 1999b - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ketterling et al., 1999b - M ? (United States) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (France) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ljung et al., 2001 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ljung et al., 2001 - M ? Sweden - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ljung et al., 2001 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ljung et al., 2001 - M ? Sweden - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ljung et al., 2001 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ljung et al., 2001 - M ? Sweden - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Ljung et al., 2001 - - Unknown ? - - 0 - DNA PCR, SEQ - - HEMB - PubMed: Ljung et al., 2001 - M ? Sweden - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Canada) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished - - Unknown ? - - 0 - ? ? - - HEMB - Unpublished - M ? (Portugal) - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Belvini et al., 2005 - - Unknown ? - - 0 - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Belvini et al., 2005 - - Unknown ? - - 0 - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Belvini et al., 2005 - - Unknown ? - - 0 - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Belvini et al., 2005 - - Unknown ? - - 0 - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Belvini et al., 2005 - - Unknown ? - - 0 - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Radic et al., 2013 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Radic et al., 2013 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Radic et al., 2013 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Radic et al., 2013 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Radic et al., 2013 - - Unknown ? - - 0 - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Radic et al., 2013 - M ? Argentina - - 0 - - 1 Geoffrey Kemball-Cook
+/+? _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? Maternal (inferred) EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - PubMed: Miller et al., 2012 - - Unknown ? - - 0 - DNA MLPA, PCR, SEQ - - HEMB - PubMed: Miller et al., 2012 - M ? United States - - 0 - - 1 Geoffrey Kemball-Cook
Legend   How to query