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     
+/+? 1 c.43C>T r.43c>u p.Arg15* Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Akkarapatumwong et al., 2000a - - Unknown ? - - - - RNA PCRlr, RT-PCR, SEQ, SSCA - - HEMA - PubMed: Akkarapatumwong et al., 2000a - M ? Thailand - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.43c>u p.Arg15* Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Bidichandani et al., 1995 - - Unknown ? - - - - RNA CMC, RT-PCR, SEQ - - HEMA - PubMed: Bidichandani et al., 1995 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Bogdanova et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2005 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Cutler et al., 2002 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: Cutler et al., 2002 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.43c>u p.Arg15* Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Green et al., 2008 - - Unknown ? - - - - RNA CMC, DHPLC, RT-PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.43c>u p.Arg15* Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Green et al., 2008 - - Unknown ? - - - - RNA CMC, DHPLC, RT-PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.43c>u p.Arg15* Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Green et al., 2008 - - Unknown ? - - - - RNA CMC, DHPLC, RT-PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Liu et al., 2002 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2002 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Pattinson et al., 1990a - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Pattinson et al., 1990a - M ? Pakistan - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Reiner & Thompson, 1992 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Reiner & Thompson, 1992 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Salviato et al., 2007 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Salviato et al., 2007 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Unknown EAHAD-CFDB likely pathogenic g.154250785G>A g.155022510G>A - - F8_000029 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 1 c.43C>T r.(?) p.(Arg15*) Maternal (inferred) EAHAD-CFDB VUS g.154250785G>A g.155022510G>A - - F8_000029 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
+/+? 1 c.43C>T r.(?) p.(Arg15*) Maternal (inferred) EAHAD-CFDB VUS g.154250785G>A g.155022510G>A - - F8_000029 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
+/+? 1 c.43C>T r.(?) p.(Arg15*) Maternal (inferred) EAHAD-CFDB VUS g.154250785G>A g.155022510G>A - - F8_000029 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
+/+? 1 c.43C>T r.(?) p.(Arg15*) Maternal (inferred) EAHAD-CFDB VUS g.154250785G>A g.155022510G>A - - F8_000029 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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