Full data view for gene F8

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

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Ahmed et al., 2005 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Ahmed et al., 2005 - M ? India - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Ahmed et al., 2005 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Ahmed et al., 2005 - M ? India - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Bogdanova et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2005 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Bogdanova et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2005 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2007 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Casaña et al., 2008 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Casaña et al., 2008 - M ? (Spain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Hay et al., 1998 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Hay et al., 1998 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Jayandharan et al., 2009 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2009 - M ? (India) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Jayandharan et al., 2009 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2009 - M ? (India) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Jayandharan et al., 2009 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2009 - M ? (India) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Laprise et al., 1998 - - Unknown ? - - - - DNA DGGE, PCR, SEQ, Southern - - HEMA - PubMed: Laprise et al., 1998 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Lin et al., 2008 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Sirocova et al., 2009 - - Unknown ? - - - - DNA MLPA, PCR, SEQ - - HEMA - PubMed: Sirocova et al., 2009 - M ? Moldova - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Sirocova et al., 2009 - - Unknown ? - - - - DNA MLPA, PCR, SEQ - - HEMA - PubMed: Sirocova et al., 2009 - M ? Moldova - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Theophilus et al., 1998 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Theophilus et al., 1998 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Theophilus et al., 1998 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Theophilus et al., 1998 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Theophilus et al., 1998 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Theophilus et al., 1998 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Theophilus et al., 2001 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Theophilus et al., 2001 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Timur et al., 2001 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Timur et al., 2001 - M ? Turkey - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Timur et al., 2001 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Timur et al., 2001 - M ? Turkey - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Timur et al., 2001 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Timur et al., 2001 - M ? Turkey - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Vidal et al., 2001 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Vidal et al., 2001 - M ? Spain - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - PubMed: Timur et al., 2001 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Timur et al., 2001 - M ? Turkey - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished Related to individual 00086819 M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Unknown EAHAD-CFDB likely pathogenic g.154091387C>T g.154863112C>T - - F8_001794 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished Related to individual 00086818 M ? - - - - - - 1 Geoffrey Kemball-Cook
+/. - c.6545G>A r.(?) p.(Arg2182His) Unknown - pathogenic g.154091387C>T g.154863112C>T F8(NM_000132.3):c.6545G>A (p.R2182H) - F8_001794 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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
+/+? 23 c.6545G>A r.(?) p.(Arg2182His) Maternal (inferred) EAHAD-CFDB VUS g.154091387C>T g.154863112C>T - - F8_001794 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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