Full data view for gene F8

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

44 entries on 1 page. Showing entries 1 - 44.
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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     
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2007 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Habart et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Habart et al., 2003 - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Habart et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Habart et al., 2003 - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Habart et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Habart et al., 2003 - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Habart et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Habart et al., 2003 - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Habart et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Habart et al., 2003 - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Higuchi et al., 1991b - - Unknown ? - - - - DNA DGGE, PCR, SEQ, Southern - - HEMA - PubMed: Higuchi et al., 1991b - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Leuer et al., 2001 - - Unknown ? - - - - DNA PCR, SEQ, Southern - - HEMA - PubMed: Leuer et al., 2001 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Liu et al., 2000 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2000 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Liu et al., 2000 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2000 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Repessé et al., 2007 Related to individual 00086606 M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Repessé et al., 2007 Related to individual 00086605 M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Repessé et al., 2007 - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Repessé et al., 2007 - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Unknown EAHAD-CFDB likely pathogenic g.154065972G>A g.154837697G>A - - F8_001667 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/. - c.6956C>T r.(?) p.(Pro2319Leu) Unknown - pathogenic g.154065972G>A g.154837697G>A F8(NM_000132.3):c.6956C>T (p.P2319L) - F8_001667 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.6956C>T r.(?) p.(Pro2319Leu) Unknown - pathogenic g.154065972G>A g.154837697G>A F8(NM_000132.3):c.6956C>T (p.P2319L) - F8_001667 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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
+/+? 26 c.6956C>T r.(?) p.(Pro2319Leu) Maternal (inferred) EAHAD-CFDB VUS g.154065972G>A g.154837697G>A - - F8_001667 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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