Full data view for gene F8

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

39 entries on 1 page. Showing entries 1 - 39.
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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     
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Ahmed et al., 2005 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Ahmed et al., 2005 - M ? India - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Becker et al., 1996 - - Unknown ? - - - - DNA CMC, DGGE, PCR, SEQ, Southern - - HEMA - PubMed: Becker et al., 1996 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Bicocchi et al., 2005a - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Bicocchi et al., 2005a - M ? (Italy) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Bogdanova et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2005 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Higuchi et al., 1989 - - Unknown ? - - - - DNA PCR, SEQ, Southern - - HEMA - PubMed: Higuchi et al., 1989 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Higuchi et al., 1989 - - Unknown ? - - - - DNA PCR, SEQ, Southern - - HEMA - PubMed: Higuchi et al., 1989 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Hua et al., 2010 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Hua et al., 2010 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Jayandharan et al., 2009 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2009 - M ? (India) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Lavergne et al., 1992 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Lavergne et al., 1992 - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Lin et al., 1993 - - Unknown ? - - - - DNA ddF, PCR, SEQ, SSCA - - HEMA - PubMed: Lin et al., 1993 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Lin et al., 1993 - - Unknown ? - - - - DNA ddF, PCR, SEQ, SSCA - - HEMA - PubMed: Lin et al., 1993 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Lin et al., 2008 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Liu et al., 1997 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Liu et al., 1997 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Liu et al., 2002 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2002 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Millar et al., 1991 - - Unknown ? - - - - DNA PCRdig, SEQ - - HEMA - PubMed: Millar et al., 1991 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Reiner & Thompson, 1992 - - Unknown ? - - - - DNA PCRdig, SEQ - - HEMA - PubMed: Reiner & Thompson, 1992 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Tavassoli et al., 1997 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: Tavassoli et al., 1997 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Vinciguerra et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Vinciguerra et al., 2006 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Youssoufian et al., 1986 - - Unknown ? - - - - DNA Southern - - HEMA - PubMed: Youssoufian et al., 1986 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Unknown EAHAD-CFDB likely pathogenic g.154124378G>A g.154896103G>A - - F8_001665 - PubMed: Youssoufian et al., 1986 - - Unknown ? - - - - DNA Southern - - HEMA - PubMed: Youssoufian et al., 1986 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
?/. - c.6403C>T r.(?) p.(Arg2135Ter) Unknown - VUS g.154124378G>A g.154896103G>A F8(NM_000132.3):c.6403C>T (p.R2135*) - F8_001665 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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
+/+? 22 c.6403C>T r.(?) p.(Arg2135*) Maternal (inferred) EAHAD-CFDB VUS g.154124378G>A g.154896103G>A - - F8_001665 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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