Full data view for gene F8

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

16 entries on 1 page. Showing entries 1 - 16.
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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     
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 no functional analysis result PubMed: Sanna et al., 2008 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Sanna et al., 2008 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2007 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Castaman et al., 2007 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Castaman et al., 2007 Potentially related to individuals 00084931 and 00084932 M ? Albania - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Castaman et al., 2007 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Castaman et al., 2007 Potentially related to individuals 00084930 and 00084932 M ? Albania - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Castaman et al., 2007 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Castaman et al., 2007 Potentially related to individuals 00084930 and 00084931 M ? Albania - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Ivaskevicius et al., 2001 - - Unknown ? - - - - DNA CMC, DGGE, DHPLC, PCR, SEQ, Southern - - HEMA - PubMed: Ivaskevicius et al., 2001 - M ? Lithuania - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Jonsdottir et al., 1992 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Jonsdottir et al., 1992 - M ? Iceland - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - PubMed: Laprise et al., 1998 - - Unknown ? - - - - DNA DGGE, PCR, SEQ, Southern - - HEMA - PubMed: Laprise et al., 1998 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished Carrier F ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished Carrier F ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Unknown EAHAD-CFDB likely pathogenic g.154133274G>A g.154904999G>A - - F8_000058 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Maternal (inferred) EAHAD-CFDB VUS g.154133274G>A g.154904999G>A - - F8_000058 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
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Maternal (inferred) EAHAD-CFDB VUS g.154133274G>A g.154904999G>A - - F8_000058 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
+/+? 16 c.5398C>T r.(?) p.(Arg1800Cys) Maternal (inferred) EAHAD-CFDB VUS g.154133274G>A g.154904999G>A - - F8_000058 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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