Full data view for gene F8

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

42 entries on 1 page. Showing entries 1 - 42.
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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.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Arai et al., 1990 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Arai et al., 1990 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Arai et al., 1990 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Arai et al., 1990 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - 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
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: David et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: David et al., 2006 - M ? Portugal - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: David et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: David et al., 2006 - M ? Portugal - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: David et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: David et al., 2006 - M ? Portugal - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Gitschier et al., 1988 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Gitschier et al., 1988 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Higuchi et al., 1990 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Higuchi et al., 1990 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Hill et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMA - PubMed: Hill et al., 2005 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - 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
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Kamisue et al., 1994 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Kamisue et al., 1994 - M ? (Japan) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Lin et al., 1993 - - Unknown ? - - - - DNA ddF, PCR, SEQ, SSCA - - HEMA - PubMed: Lin et al., 1993 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Morichika et al., 1997 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: Morichika et al., 1997 - M ? Japan - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - 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.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - 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.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - 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.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Pieneman et al., 1995 - - Unknown ? - - - - DNA DSCA, PCR, SEQ, SSCA - - HEMA - PubMed: Pieneman et al., 1995 - M ? (Netherlands) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Ruan et al., 1997 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Ruan et al., 1997 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Schwaab et al., 1991 - - Unknown ? - - - - DNA PCR, SEQ, Southern - - HEMA - PubMed: Schwaab et al., 1991 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Schwaab et al., 1997 - - Unknown ? - - - - DNA CMC, DGGE, PCR, SEQ, SSCA - - HEMA - PubMed: Schwaab et al., 1997 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Schwaab et al., 1997 - - Unknown ? - - - - DNA CMC, DGGE, PCR, SEQ, SSCA - - HEMA - PubMed: Schwaab et al., 1997 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Timur et al., 2001 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Timur et al., 2001 - M ? Turkey - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Unknown EAHAD-CFDB likely pathogenic g.154156943G>A g.154928668G>A - - F8_000632 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/. - c.5122C>T r.(?) p.(Arg1708Cys) Unknown - pathogenic g.154156943G>A g.154928668G>A F8(NM_000132.3):c.5122C>T (p.R1708C) - F8_000632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5122C>T r.(?) p.(Arg1708Cys) Unknown - pathogenic g.154156943G>A g.154928668G>A F8(NM_000132.3):c.5122C>T (p.R1708C) - F8_000632 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 14 c.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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.5122C>T r.(?) p.(Arg1708Cys) Maternal (inferred) EAHAD-CFDB VUS g.154156943G>A g.154928668G>A - - F8_000632 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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