Full data view for gene F8

Information The variants shown are described using the NM_000132.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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     
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Habart et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Habart et al., 2003 - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Jayandharan et al., 2009 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2009 - M ? (India) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished Carrier F ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Lin et al., 2008 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Naylor et al., 1993 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Naylor et al., 1993 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Pattinson et al., 1990b - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Pattinson et al., 1990b - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Rossetti et al., 2007 - - Unknown ? - - - - DNA CSCE, PCR, PCRlr, SEQ, Southern - - HEMA - PubMed: Rossetti et al., 2007 - M ? Argentina - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Salviato et al., 2007 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Salviato et al., 2007 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Salviato et al., 2007 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Salviato et al., 2007 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Santacroce et al., 2008 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Santacroce et al., 2008 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Acquila et al., 2004b - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Acquila et al., 2004b - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Unknown EAHAD-CFDB likely pathogenic g.154156922G>A g.154928647G>A - - F8_000621 - PubMed: Acquila et al., 2004b - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Acquila et al., 2004b - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/. - c.5143C>T r.(?) p.(Arg1715Ter) Unknown - pathogenic g.154156922G>A g.154928647G>A F8(NM_000132.3):c.5143C>T (p.R1715*) - F8_000621 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Maternal (inferred) EAHAD-CFDB VUS g.154156922G>A g.154928647G>A - - F8_000621 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Maternal (inferred) EAHAD-CFDB VUS g.154156922G>A g.154928647G>A - - F8_000621 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Maternal (inferred) EAHAD-CFDB VUS g.154156922G>A g.154928647G>A - - F8_000621 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5143C>T r.(?) p.(Arg1715*) Maternal (inferred) EAHAD-CFDB VUS g.154156922G>A g.154928647G>A - - F8_000621 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
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